ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

Syngal, Sapna; Brand, Randall E; Church, James M; Giardiello, Francis M; Hampel, Heather L; Burt, Randall W

doi:10.1038/ajg.2014.435

Cited by 1,662Genetic factors in colorectal cancerBRCA gene mutations in cancerColorectal Cancer Screening and Detection

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

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Syngal, Sapna, Brand, Randall E, Church, James M, Giardiello, Francis M, Hampel, Heather L, Burt, Randall W·2015·American Journal of Gastroenterology

DOI 10.1038/ajg.2014.435PMC PMC4695986

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Abstract

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.

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Pancreas surveillance has been recommended for individuals estimated to be at high risk of developing PDAC (5% or higher estimated lifetime risk).
“Pancreas surveillance has been recommended for individuals estimated to be at high risk of developing PDAC (5% or higher estimated lifetime risk).5-8”
From The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival (2022) · cites this paper as [8]

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GRADE: an emerging consensus on rating quality of evidence and strength of recommendations
Guyatt, G. H., Oxman, A. D., Vist, G. E., Kunz, R., Falck-Ytter, Y., Alonso-Coello, P., & Schünemann, H. J. (2008) · BMJ · doi:10.1136/bmj.39489.470347.ad · Cited by 23,305 · see citing works
International consensus guidelines 2012 for the management of IPMN and MCN of the pancreas
Tanaka, M., Fernández-del Castillo, C., Adsay, V., Chari, S., Falconi, M., Jang, J.-Y., Kimura, W., Levy, P., Pitman, M. B., Schmidt, C. M., et al. (2012) · Pancreatology · doi:10.1016/j.pan.2012.04.004 · Cited by 2,354 · see citing works
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R. E., Peltomäki, P., Sistonen, P., Aaltonen, L. A., Nyström, M., et al. (1993) · Cell · doi:10.1016/0092-8674(93)90330-s · Cited by 2,271 · see citing works
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
Liaw, D., Marsh, D. J., Li, J., Dahia, P. L. M., Wang, S. I., Zheng, Z., Bose, S., Call, K. M., Tsou, H. C., Peacoke, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-64 · Cited by 2,067 · see citing works
Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer
Bronner, C. E., Baker, S. M., Morrison, P. T., Warren, G., Smith, L. G., Lescoe, M. K., Kane, M., Earabino, C., Lipford, J. R., Lindblom, A., et al. (1994) · Nature · doi:10.1038/368258a0 · Cited by 2,050 · see citing works
Mutation of a mutL Homolog in Hereditary Colon Cancer
Papadopoulos, N., Nicolaides, N. C., Wei, Y.-F., Ruben, S. M., Carter, K. C., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., Adams, M. D., et al. (1994) · Science · doi:10.1126/science.8128251 · Cited by 1,822 · see citing works
E-cadherin germline mutations in familial gastric cancer
Guilford, P., Hopkins, J., Harraway, J. R., McLeod, M., McLeod, N., Harawira, P., Taite, H., Scoular, R., Miller, A. C., & Reeve, A. E. (1998) · Nature · doi:10.1038/32918 · Cited by 1,653 · see citing works
Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer
Nicolaides, N. C., Papadopoulos, N., Liu, B., Weit, Y.-F., Carter, K. C., Ruben, S. M., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., et al. (1994) · Nature · doi:10.1038/371075a0 · Cited by 1,543 · see citing works
Long-term colorectal-cancer incidence and mortality after lower endoscopy
Nishihara, R., Wu, K., Lochhead, P., Morikawa, T., Liao, X., Qian, Z. R., Inamura, K., Kim, S. A., Kuchiba, A., Yamauchi, M., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1301969 · Cited by 1,483 · see citing works
Very high risk of cancer in familial Peutz–Jeghers syndrome
Giardiello, F. M., Brensinger, J. D., Tersmette, A. C., Goodman, S. N., Petersen, G. M., Booker, S. V., Cruz–Correa, M., & Offerhaus, G. J. A. (2000) · Gastroenterology · doi:10.1053/gast.2000.20228 · Cited by 1,435 · see citing works
Self-citation
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
Hampel, H., Frankel, W. L., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., Nakagawa, H., Sotamaa, K., Prior, T. W., Westman, J., et al. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa043146 · Cited by 1,408 · see citing works
Self-citation
Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
Tassan, N. A. A., Chmiel, N. H., Maynard, J. H., Fleming, N. I., Livingston, A. L., Williams, G. T., Hodges, A., Davies, D. R., David, S. S., Sampson, J. R., et al. (2002) · Nature Genetics · doi:10.1038/ng828 · Cited by 1,392 · see citing works
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
Järvinen, H. J., Aarnio, M., Mustonen, H., Aktan–Collan, K., Aaltonen, L. A., Peltomäki, P., Chapelle, A. D. L., & Mecklin, J. (2000) · Gastroenterology · doi:10.1016/s0016-5085(00)70168-5 · Cited by 1,337 · see citing works
Hereditary and Familial Colon Cancer
Jasperson, K. W., Tuohy, T. M. F., Neklason, D. W., & Burt, R. W. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.01.054 · Cited by 1,314 · see citing works
Self-citation
Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease
Aaltonen, L. A., Salovaara, R., Kristo, P., Canzian, F., Hemminki, A., Peltomäki, P., Chadwick, R. B., Kääriäinen, H., Eskelinen, M. J., Järvinen, H., et al. (1998) · New England Journal of Medicine · doi:10.1056/nejm199805213382101 · Cited by 1,150 · see citing works
The Molecular Basis of Turcot's Syndrome
Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Têtu, B., et al. (1995) · New England Journal of Medicine · doi:10.1056/nejm199503303321302 · Cited by 1,125 · see citing works
Self-citation
Serrated Lesions of the Colorectum: Review and Recommendations From an Expert Panel
Rex, D. K., Ahnen, D. J., Baron, J. A., Batts, K. P., Burke, C. A., Burt, R. W., Goldblum, J. R., Guillem, J. G., Kahi, C. J., Kalady, M. F., et al. (2012) · The American Journal of Gastroenterology · doi:10.1038/ajg.2012.161 · Cited by 1,116 · see citing works
Self-citation
Cancer Risks Associated With Germline Mutations in MLH1 , MSH2 , and MSH6 Genes in Lynch Syndrome
Bonadona, V. (2011) · JAMA · doi:10.1001/jama.2011.743 · Cited by 1,106 · see citing works
BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt–β-catenin signaling
He, X., Zhang, J., Tong, W.-G., Tawfik, O. W., Ross, J., Scoville, D. H., Tian, Q., Zeng, X., He, X., Wiedemann, L. M., et al. (2004) · Nature Genetics · doi:10.1038/ng1430 · Cited by 1,065 · see citing works
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Palles, C., Cazier, J., Howarth, K. M., Domingo, E., Jones, A. M., Broderick, P., Kemp, Z., Spain, S. L., Guarino, E., Salguero, I., et al. (2012) · Nature Genetics · doi:10.1038/ng.2503 · Cited by 995 · see citing works
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
Burn, J., Gerdes, A., Macrae, F., Mecklin, J., Möslein, G., Olschwang, S., Eccles, D., Evans, D. G., Maher, E. R., Bertario, L., et al. (2011) · The Lancet · doi:10.1016/s0140-6736(11)61049-0 · Cited by 947 · see citing works
Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer
Peltomäki, P., Aaltonen, L. A., Sistonen, P., Pylkkänen, L., Mecklin, J., Järvinen, H., Green, J. S., Jass, J. R., Weber, J. L., Leach, F. S., et al. (1993) · Science · doi:10.1126/science.8484120 · Cited by 928 · see citing works
Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis
Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Järvinen, H., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., et al. (1998) · Science · doi:10.1126/science.280.5366.1086 · Cited by 908 · see citing works
Lifetime Cancer Risks in Individuals with GermlinePTENMutations
Tan, M.-H., Mester, J. L., Ngeow, J. Y. Y., Rybicki, L. A., Orloff, M. S., & Eng, C. (2012) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-11-2283 · Cited by 892 · see citing works
Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer
Hampel, H., Frankel, W. L., Martin, E. W., ARNOLD, M. W., Khanduja, K. S., Kuebler, P. J., Clendenning, M., Sotamaa, K., Prior, T. W., Westman, J. A., et al. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2008.17.5950 · Cited by 875 · see citing works
Self-citation
Multiple Colorectal Adenomas, Classic Adenomatous Polyposis, and Germ-Line Mutations inMYH
Sieber, O. M., Lipton, L. R., Crabtree, M., Heinimann, K., Fidalgo, P. O., Phillips, R. K. S., Bisgaard, M.-L., Orntoft, T. F., Aaltonen, L. A., Hodgson, S. V., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa025283 · Cited by 859 · see citing works
Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome
Hearle, N., Schumacher, V., Menko, F. H., Olschwang, S., Boardman, L. A., Gille, J. J. P., Keller, J. J., Westerman, A. M., Scott, R. J., Lim, W., et al. (2006) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-06-0083 · Cited by 854 · see citing works
Self-citation
Exomic Sequencing Identifies <i>PALB2</i> as a Pancreatic Cancer Susceptibility Gene
Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., et al. (2009) · Science · doi:10.1126/science.1171202 · Cited by 826 · see citing works
Peutz–Jeghers syndrome: a systematic review and recommendations for management
Beggs, A. D., Latchford, A. R., Vasen, H. F. A., et al. (2010) · Gut · doi:10.1136/gut.2009.198499 · Cited by 826 · see citing works
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., et al. (2009) · Nature Genetics · doi:10.1038/ng.283 · Cited by 818 · see citing works
UPPER GASTROINTESTINAL CANCER IN PATIENTS WITH FAMILIAL ADENOMATOUS POLYPOSIS
Spigelman, A. D., Talbot, I. C., Williams, C. B., Domizio, P., & Rw, P. (1989) · The Lancet · doi:10.1016/s0140-6736(89)90840-4 · Cited by 797 · see citing works
Prophylactic Surgery to Reduce the Risk of Gynecologic Cancers in the Lynch Syndrome
Schmeler, K. M., Lynch, H. T., Chen, L.-M., Munsell, M. F., Soliman, P. T., Clark, M. B., Daniels, M. S., White, K. G., Boyd-Rogers, S. G., Conrad, P. G., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa052627 · Cited by 792 · see citing works
International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
Canto, M. I., Harinck, F., Hruban, R. H., Offerhaus, G. J., Poley, J.-W., Kamel, I., Nio, Y., Schulick, R. S., Bassi, C., Kluijt, I., et al. (2013) · Gut · doi:10.1136/gutjnl-2012-303108 · Cited by 784 · see citing works
Familial adenomatous polyposis
Galiatsatos, P., & Foulkes, W. D. (2006) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.2006.00375.x · Cited by 757 · see citing works
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
Miyaki, M., Konishi, M., Tanaka, K., Kikuchi‐Yanoshita, R., Muraoka, M., Yasuno, M., Igari, T., Koike, M., Chiba, M., & Mori, T. (1997) · Nature Genetics · doi:10.1038/ng1197-271 · Cited by 720 · see citing works
Guidelines for the clinical management of familial adenomatous polyposis (FAP)
Vasen, H. F. A., Möslein, G., Alonso, Á. M., et al. (2008) · Gut · doi:10.1136/gut.2007.136127 · Cited by 704 · see citing works
Cancer risk associated with germline DNA mismatch repair gene mutations
Dunlop, M. G. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.1.105 · Cited by 694 · see citing works
Prospective Risk of Pancreatic Cancer in Familial Pancreatic Cancer Kindreds
Klein, A. P., Brune, K. A., Petersen, G. M., Goggins, M., Tersmette, A. C., Offerhaus, G. J. A., Griffin, C., Cameron, J. L., Yeo, C. J., Kern, S., et al. (2004) · Cancer Research · doi:10.1158/0008-5472.can-03-3823 · Cited by 678 · see citing works
Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
(2009) · Genetics in Medicine · doi:10.1097/gim.0b013e31818fa2ff · Cited by 678 · see citing works
Localization of the gene for Cowden disease to chromosome 10q22–23
Nelen, M. R., Padberg, G. W. A. M., Peeters, E. A. J., Lin, A. Y., van den Helm, B., Frants, R. R., Goulon, V., Goldstein, A. M., van Reen, M. M. M., Eastern, D. F., et al. (1996) · Nature Genetics · doi:10.1038/ng0596-114 · Cited by 667 · see citing works
Frequent detection of pancreatic lesions in asymptomatic high-risk individuals
Canto, M. I., Hruban, R. H., Fishman, E. K., Kamel, I. R., Schulick, R., Zhang, Z., Topazian, M., Takahashi, N., Fletcher, J., Petersen, G., et al. (2012) · Gastroenterology · doi:10.1053/j.gastro.2012.01.005 · Cited by 648 · see citing works
Self-citation
Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families
Pharoah, P. D. P., Guilford, P., & Caldas, C. H. (2001) · Gastroenterology · doi:10.1053/gast.2001.29611 · Cited by 639 · see citing works
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., & Vogelstein, B. (2001) · Nature Genetics · doi:10.1038/88919 · Cited by 630 · see citing works
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review.
Lindor, N. M., Petersen, G. M., Hadley, D. W., Kinney, A. Y., Miesfeldt, S., Lu, K. H., Lynch, P. M., Burke, W., & Press, N. A. (2006) · PubMed · doi:10.1001/jama.296.12.1507 · Cited by 628 · see citing works
Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds withp16INK4Mutations
Goldstein, A. M., Fraser, M. C., Struewing, J. P., Hussussian, C. J., Ranade, K., Zametkin, D. P., Fontaine, L. S., Organic, S. M., Dracopoli, N. C., Clark, W. H., et al. (1995) · New England Journal of Medicine · doi:10.1056/nejm199510123331504 · Cited by 620 · see citing works
The risk of extra‐colonic, extra‐endometrial cancer in the Lynch syndrome
Watson, P. A., Vasen, H. F. A., Mecklin, J., Bernstein, I., Aarnio, M., Järvinen, H., Myrhøj, T., Sunde, L., Wijnen, J., & Lynch, H. T. (2008) · International Journal of Cancer · doi:10.1002/ijc.23508 · Cited by 594 · see citing works
Will the real Cowden syndrome please stand up: revised diagnostic criteria
Eng, C. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.11.828 · Cited by 564 · see citing works
The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations
Senter, L. A., Clendenning, M., Sotamaa, K., et al. (2008) · Gastroenterology · doi:10.1053/j.gastro.2008.04.026 · Cited by 552 · see citing works
The Cowden syndrome: a clinical and genetic study in 21 patients
Starink, T. M., van der Veen, J. P. W., Arwert, F., de Waal, L. P., de Lange, G. G., Gille, J. J. P., & Eriksson, A. W. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb00816.x · Cited by 549 · see citing works
Risk of Pancreatic Cancer in Families With Lynch Syndrome
Kastrinos, F. (2009) · JAMA · doi:10.1001/jama.2009.1529 · Cited by 544 · see citing works
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
Fitzgerald, R. C., Hardwick, R. H., Huntsman, D. D., Carneiro, F., Guilford, P., Blair, V., Chung, D. C., Norton, J. A., Ragunath, K., van Krieken, J. H., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.074237 · Cited by 541 · see citing works
High Cancer Risk in Peutz–Jeghers Syndrome: A Systematic Review and Surveillance Recommendations
van Lier, M. G., Wagner, A., Mathus-Vliegen, E. M. H., Kuipers, E. J., Steyerberg, E. W., & van Leerdam, M. E. (2010) · The American Journal of Gastroenterology · doi:10.1038/ajg.2009.725 · Cited by 541 · see citing works
Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer
Piñol, V. (2005) · JAMA · doi:10.1001/jama.293.16.1986 · Cited by 528 · see citing works
Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer
Järvinen, H., Mecklin, J., & Sistonen, P. (1995) · Gastroenterology · doi:10.1016/0016-5085(95)90688-6 · Cited by 514 · see citing works
Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer
Salovaara, R., Loukola, A., Kristo, P., Kääriäinen, H., Ahtola, H., Eskelinen, M. J., Härkönen, N., Julkunen, R. J. K., Kangas, E., Ojala, S., et al. (2000) · Journal of Clinical Oncology · doi:10.1200/jco.2000.18.11.2193 · Cited by 508 · see citing works
Familial gastric cancer: overview and guidelines for management.
Caldas, C. H., Carneiro, F., Lynch, H. T., et al. (1999) · PubMed · Cited by 508 · see citing works
<i>ATM</i> Mutations in Patients with Hereditary Pancreatic Cancer
Roberts, N. J., Jiao, Y., Yu, J., Kopelovich, L., Petersen, G. M., Bondy, M. L., Gallinger, S., Schwartz, A. G., Syngal, S., Cote, M. L., et al. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-11-0194 · Cited by 491 · see citing works
Self-citation
Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate
Bisgaard, M. L., Fenger, K., Bülow, S., et al. (1994) · Human Mutation · doi:10.1002/humu.1380030206 · Cited by 491 · see citing works
Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer
Giardiello, F. M., Allen, J. I., Axilbund, J. E., Boland, C. R., Burke, C. A., Burt, R. W., Church, J. M., Dominitz, J. A., Johnson, D. A., Kaltenbach, T. R., et al. (2014) · The American Journal of Gastroenterology · doi:10.1038/ajg.2014.186 · Cited by 483 · see citing works
Self-citation
Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer
Barnetson, R. A., Tenesa, A., Farrington, S. M., Nicholl, I. D., Cetnarskyj, R., Porteous, M. E., Campbell, H., & Dunlop, M. G. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa053493 · Cited by 476 · see citing works
UPPER GASTROINTESTINAL CANCER IN FAMILIAL ADENOMATOUS POLYPOSIS
Jagelman, D. G. (1988) · The Lancet · doi:10.1016/s0140-6736(88)91962-9 · Cited by 472 · see citing works
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease
Nelen, M. R. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.8.1383 · Cited by 465 · see citing works
Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.
Akiyama, Y., Sato, H., Yamada, T., Nagasaki, H., Tsuchiya, A., Abe, R., & Yuasa, Y. (1997) · PubMed · Cited by 463 · see citing works
Juvenile polyposis–a precancerous condition
Jass, J. R., WILLIAMS, C. B., Bussey, H. J. R., et al. (1988) · Histopathology · doi:10.1111/j.1365-2559.1988.tb02093.x · Cited by 462 · see citing works
Peutz-Jeghers Syndrome and Management Recommendations
GIARDIELLO, F., & Trimbath, J. D. (2006) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2005.11.005 · Cited by 449 · see citing works
Self-citation
Duodenal adenomatosis in familial adenomatous polyposis
Bülow, S. (2004) · Gut · doi:10.1136/gut.2003.027771 · Cited by 444 · see citing works
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
Sampson, J. R., Dolwani, S., Jones, S., Eccles, D., Ellis, A., Evans, D. G., Frayling, I. M., Jordan, S., Maher, E. R., Mak, T. W. C., et al. (2003) · The Lancet · doi:10.1016/s0140-6736(03)13805-6 · Cited by 441 · see citing works
Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer
Lindblom, A., Tannergård, P., Werelius, B., & Nordenskjöld, M. (1993) · Nature Genetics · doi:10.1038/ng1193-279 · Cited by 439 · see citing works
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance
Hendriks, Y. M. C., Wagner, A., Morreau, H. M., Menko, F. H., Stormorken, A. T., Quehenberger, F., Sandkuijl, L. A., Møller, P., Genuardi, M., van Houwelingen, H. C., et al. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.03.068 · Cited by 425 · see citing works
Colon cancer screening
Burt, R. W. (2000) · Gastroenterology · doi:10.1053/gast.2000.16508 · Cited by 422 · see citing works
Self-citation
American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility
Robson, M. E., Storm, C. D., Weitzel, J. N., Wollins, D. S., & Offit, K. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.27.0660 · Cited by 421 · see citing works
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
van Asperen, C. J., Brohet, R. M., Meijers-Heijboer, E. J., Hoogerbrugge, N., Verhoef, S., Vasen, H. F. A., Ausems, M. G. E. M., Menko, F. H., Gómez-García, E. B., Klijn, J. G. M., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.028829 · Cited by 419 · see citing works
The genetic basis of colorectal cancer: Insights into critical pathways of tumorigenesis
Chung, D. C. (2000) · Gastroenterology · doi:10.1053/gast.2000.16507 · Cited by 407 · see citing works
MSH2 Mutation Carriers Are at Higher Risk of Cancer Than MLH1 Mutation Carriers: A Study of Hereditary Nonpolyposis Colorectal Cancer Families
Vasen, H. F. A., Stormorken, A. T., Menko, F. H., Nagengast, F. M., Kleibeuker, J. H., Griffioen, G. G., Taal, B. G., Møller, P., & Wijnen, J. (2001) · Journal of Clinical Oncology · doi:10.1200/jco.2001.19.20.4074 · Cited by 406 · see citing works
The Muir-Torre syndrome: A 25-year retrospect
Schwartz, R. A., & Torre, D. (1995) · Journal of the American Academy of Dermatology · doi:10.1016/0190-9622(95)90017-9 · Cited by 402 · see citing works
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C->T:A mutations
Jones, S. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.23.2961 · Cited by 401 · see citing works
Mutations of theAPC adenomatous polyposis coli) gene
Nagase, H., & Nakamura, Y. (1993) · Human Mutation · doi:10.1002/humu.1380020602 · Cited by 394 · see citing works
Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study
Groves, C. J., Saunders, B. P., Spigelman, A. D., et al. (2002) · Gut · doi:10.1136/gut.50.5.636 · Cited by 388 · see citing works
Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature
Nieuwenhuis, M. H., & Vasen, H. F. A. (2006) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2006.07.004 · Cited by 387 · see citing works
Double-balloon enteroscopy (push-and-pull enteroscopy) of the small bowel: feasibility and diagnostic and therapeutic yield in patients with suspected small bowel disease
May, A. D., Nachbar, L., & Ell, C. (2005) · Gastrointestinal Endoscopy · doi:10.1016/s0016-5107(05)01586-5 · Cited by 378 · see citing works
Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers
Baglietto, L., Lindor, N. M., Dowty, J. G., White, D. M., Wagner, A., Gómez-García, E. B., Vriends, A. H. J. T., Dutch Lynch Syndrome Study Group, Cartwright, N., Barnetson, R. A., et al. (2009) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djp473 · Cited by 375 · see citing works
Self-citation
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Bubien, V., Bonnet, F., Brouste, V., Hoppe, S., Barouk-Simonet, E., David, A., Edery, P., Bottani, A., Layet, V., Caron, O., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101339 · Cited by 374 · see citing works
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.
Liu, B., Parsons, R. E., Hamilton, S. R., Petersen, G. M., Lynch, H. T., Watson, P., Markowitz, S. D., Willson, J. K. V., Green, J., & de la Chapelle, A. (1994) · PubMed · Cited by 360 · see citing works
Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis.
Giardiello, F. M., Offerhaus, G. J. A., Lee, D. H., Krush, A. J., Tersmette, A. C., Booker, S. V., Kelley, N., & Hamilton, S. R. (1993) · Gut · doi:10.1136/gut.34.10.1394 · Cited by 359 · see citing works
Self-citation
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria
Brooks-Wilson, A. R., Kaurah, P., Suriano, G., Leach, S., Senz, J., Grehan, N., Butterfield, Y. S. N., Jeyes, J., Schinas, J., Bacani, J., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.018275 · Cited by 359 · see citing works
Cancer Risk in Hereditary Nonpolyposis Colorectal Cancer Syndrome: Later Age of Onset
Hampel, H., Stephens, J. A., Pukkala, ., et al. (2005) · Gastroenterology · doi:10.1053/j.gastro.2005.05.011 · Cited by 357 · see citing works
Self-citation
The Hamartomatous Polyposis Syndromes: A Clinical and Molecular Review
Schreibman, I. R., Baker, M. J., Amos, C. I., & McGarrity, T. J. (2005) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.2005.40237.x · Cited by 353 · see citing works
Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis
Vogt, S. L., Jones, N., Christian, D., Engel, C., Nielsen, M., Kaufmann, A., Steinke, V., Vasen, H. F. A., Propping, P., Sampson, J. R., et al. (2009) · Gastroenterology · doi:10.1053/j.gastro.2009.08.052 · Cited by 347 · see citing works
AGA technical review on hereditary colorectal cancer and genetic testing
Giardiello, F. M., Brensinger, J. D., & Petersen, G. M. (2001) · Gastroenterology · doi:10.1053/gast.2001.25581 · Cited by 347 · see citing works
Self-citation
High Frequency of Multiple Melanomas and Breast and Pancreas Carcinomas in CDKN2A Mutation-Positive Melanoma Families
Borg, A., Sandberg, T., Nilsson, K., Johannsson, O., Klinker, M., Masback, A., Westerdahl, J., Olsson, H., & Ingvar, C. (2000) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/92.15.1260 · Cited by 345 · see citing works
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome: Table 1
Pilarski, R., & Eng, C. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.018036 · Cited by 329 · see citing works
Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer
Richards, F. M., McKee, S. A., Rajpar, M. H., Cole, T. R. P., Evans, D. G., Jankowski, J. A., McKeown, C., Sanders, D. S. A., & Maher, E. R. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.4.607 · Cited by 326 · see citing works
Identification of germ-line E-cadherin mutations in gastric cancer families of European origin.
Gayther, S. A., Gorringe, K. L., Ramus, S. J., Huntsman, D. D., Roviello, G., Grehan, N., Machado, J. C., Pinto, E., Seruca, R., Halling, K. C., et al. (1998) · PubMed · Cited by 325 · see citing works
Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study.
Win, A. K., Young, J., Lindor, N., Tucker, K., Ahnen, D., Young, G., Buchanan, D., Clendenning, M., Giles, G., Winship, I., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2011.39.5590 · Cited by 324 · see citing works
Cigarette Smoking as a Risk Factor for Pancreatic Cancer in Patients With Hereditary Pancreatitis
Lowenfels, A. B. (2001) · JAMA · doi:10.1001/jama.286.2.169 · Cited by 323 · see citing works
Advances in counselling and surveillance of patients at risk for pancreatic cancer: Table 1
Brand, R. E., Lerch, M. M., Rubinstein, W. S., Neoptolemos, J. P., Whitcomb, D. C., Hruban, R. H., Brentnall, T. A., Lynch, H. T., & Canto, M. I. (2007) · Gut · doi:10.1136/gut.2006.108456 · Cited by 319 · see citing works
Self-citation
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations
Barrow, E., Robinson, L. A., Alduaij, W., Shenton, A., Clancy, T., Lalloo, F. I., Hill, J., & Evans, D. G. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01125.x · Cited by 318 · see citing works
Identification and quantification of aberrant crypt foci and microadenomas in the human colon
Roncucci, L., Stamp, D., Medline, A., et al. (1991) · Human Pathology · doi:10.1016/0046-8177(91)90163-j · Cited by 318 · see citing works
Cowden Syndrome: A Critical Review of the Clinical Literature
Pilarski, R. (2008) · Journal of Genetic Counseling · doi:10.1007/s10897-008-9187-7 · Cited by 309 · see citing works
Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome
Engel, C., Loeffler, M. W., Steinke, V., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2012.43.2278 · Cited by 307 · see citing works
Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
Friedl, W., Caspari, R., Sengteller, M., Uhlhaas, S., Lamberti, C., Jungck, M., Kadmon, M., Wolf, M., Fahnenstich, J., Gebert, J., et al. (2001) · Gut · doi:10.1136/gut.48.4.515 · Cited by 301 · see citing works
Peutz-Jeghers syndrome
McGarrity, T. J., Kulin, H. E., & Zaino, R. J. (2000) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.2000.01831.x · Cited by 301 · see citing works
The risk of gastrointestinal carcinoma in familial juvenile polyposis
Howe, J. R., Mitros, F. A., & Summers, R. W. (1998) · Annals of Surgical Oncology · doi:10.1007/bf02303487 · Cited by 297 · see citing works
Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects
Farrington, S. M., Tenesa, A., Barnetson, R. A., Wiltshire, A., Prendergast, J. G. D., Porteous, M. E., Campbell, H., & Dunlop, M. G. (2005) · The American Journal of Human Genetics · doi:10.1086/431213 · Cited by 293 · see citing works
Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery
Parry, S., Win, A. K., Parry, B. R., Macrae, F., Gurrin, L. C., Church, J. M., Baron, J. A., Giles, G. G., Leggett, B., Winship, I., et al. (2010) · Gut · doi:10.1136/gut.2010.228056 · Cited by 285 · see citing works
Self-citation
Attenuated familial adenomatous polyposis (AFAP): a review of the literature
Knudsen, A. L., Bisgaard, M. L., & Bülow, S. (2003) · Familial Cancer · doi:10.1023/a:1023286520725 · Cited by 284 · see citing works
Ten Years After Mutation Testing for Lynch Syndrome: Cancer Incidence and Outcome in Mutation-Positive and Mutation-Negative Family Members
Järvinen, H., Renkonen‐Sinisalo, L., Aktan–Collan, K., et al. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2009.23.7784 · Cited by 282 · see citing works
Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment
Quehenberger, F., Vasen, H. F. A., & van Houwelingen, H. C. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024299 · Cited by 280 · see citing works
Risk of colorectal cancer in juvenile polyposis
Brosens, L. A. A., van Hattem, A., Hylind, L. M., et al. (2007) · Gut · doi:10.1136/gut.2006.116913 · Cited by 278 · see citing works
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
Aretz, S., Stienen, D., Uhlhaas, S., et al. (2005) · Human Mutation · doi:10.1002/humu.20253 · Cited by 276 · see citing works
Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis
Lynch, E. D., Ostermeyer, E. A., Lee, M. K., Arena, J. F., Ji, H. P., Dann, J. L., Swisshelm, K. L., Suchard, D., MacLeod, P., Kvinnsland, S., et al. (1997) · The American Journal of Human Genetics · doi:10.1086/301639 · Cited by 275 · see citing works
The Prevalence of BRCA2 Mutations in Familial Pancreatic Cancer
Couch, F. J., Johnson, M. R., Rabe, K. G., Brune, K. A., de Andrade, M., Goggins, M., Rothenmund, H., Gallinger, S., Klein, A. P., Petersen, G. M., et al. (2007) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-06-0783 · Cited by 273 · see citing works
Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers
Heald, B., Mester, J. L., Rybicki, L. A., et al. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.06.061 · Cited by 271 · see citing works
Bone morphogenetic protein 2 is expressed by, and acts upon, mature epithelial cells in the colon
Hardwick, J. C. H., BRINK, G. R. V. D., Bleuming, S. A., Ballester, I., van den Brande, J. M. H., Keller, J. J., Offerhaus, G. J. A., van Deventer, S. J. H., & Peppelenbosch, M. P. (2003) · Gastroenterology · doi:10.1053/j.gastro.2003.10.067 · Cited by 261 · see citing works
Importance of Age of Onset in Pancreatic Cancer Kindreds
Brune, K. A., Lau, B., Palmisano, E., Canto, M., Goggins, M. G., Hruban, R. H., & Klein, A. P. (2010) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djp466 · Cited by 257 · see citing works
The yield of first-time endoscopic ultrasonography in screening individuals at a high risk of developing pancreatic cancer
Poley, J. W., Kluijt, I., Gouma, D. J., Harinck, F., Wagner, A., Aalfs, C., van Eijck, C. H. J., Cats, A., Kuipers, E. J., Nio, Y., et al. (2009) · The American Journal of Gastroenterology · doi:10.1038/ajg.2009.276 · Cited by 257 · see citing works
Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: Cumulative risks and APC gene mutations
Björk, J. A., Åkerbrant, H. I., Iselius, L., et al. (2001) · Gastroenterology · doi:10.1053/gast.2001.28707 · Cited by 254 · see citing works
Relative frequency and morphology of cancers in STK11 mutation carriers1 ☆
Lim, W., Olschwang, S., Keller, J. J., Westerman, A. M., Menko, F. H., Boardman, L. A., Scott, R. J., Trimbath, J. D., Giardiello, F. M., & Gruber, S. B. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.03.014 · Cited by 253 · see citing works
Self-citation
Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*
Zhou, X., Woodford-Richens, K., Lehtonen, R., 黒瀬, 圭., Aldred, M. A., Hampel, H., Launonen, V., Virta, S., Pilarski, R., Salovaara, R., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/323703 · Cited by 252 · see citing works
Self-citation
The Impact of Familial Adenomatous Polyposis on the Tumorigenesis and Mortality at the Several Organs
Iwama∥, T., Mishima, Y., & Utsunomiya, J. (1993) · Annals of Surgery · doi:10.1097/00000658-199302000-00002 · Cited by 250 · see citing works
One to 2-Year Surveillance Intervals Reduce Risk of Colorectal Cancer in Families With Lynch Syndrome
Vasen, H. F. A., Abdirahman, M., Brohet, R. M., et al. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.02.053 · Cited by 243 · see citing works
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
Aretz, S., Stienen, D., Uhlhaas, S., Stolte, M., Entius, M. M., Loff, S., Back, W. E., Kaufmann, A., Keller, K., Blaas, S. H., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.052506 · Cited by 242 · see citing works
Validation of family history data in cancer family registries
Ziogas, A., & Anton‐Culver, H. (2003) · American Journal of Preventive Medicine · doi:10.1016/s0749-3797(02)00593-7 · Cited by 241 · see citing works
Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study
Boparai, K. S., Mathus-Vliegen, E. M. H., Koornstra, J. J., et al. (2009) · Gut · doi:10.1136/gut.2009.185884 · Cited by 239 · see citing works
American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers
Lu, K. H., Wood, M. E., Daniels, M. S., Burke, C., Ford, J. M., Kauff, N. D., Kohlmann, W. K., Lindor, N. M., Mulvey, T. M., Robinson, L. D., et al. (2014) · Journal of Clinical Oncology · doi:10.1200/jco.2013.50.9257 · Cited by 238 · see citing works
Self-citation
Gowden's disease.A cutaneous marker of breast cancer
Brownstein, M. H., Wolf, M., & Bikowski, J. (1978) · Cancer · doi:10.1002/1097-0142(197806)41:6 · Cited by 236 · see citing works
Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations.
Lal, G., Liu, G., Schmocker, B., Kaurah, P., Özçelik, H., Narod, S. A., Redston, M. S., & Gallinger, S. (2000) · PubMed · Cited by 233 · see citing works
Protein misfolding and degradation in genetic diseases
Bross, P., Corydon, T. J., Andresen, B. S., J�rgensen, M. M., Bolund, L., & Gregersen, N. (1999) · Human Mutation · doi:10.1002/(sici)1098-1004(1999)14:3 · Cited by 232 · see citing works
Family history is a significant risk factor for pancreatic cancer: results from a systematic review and meta-analysis
Permuth‐Wey, J., & Egan, K. M. (2008) · Familial Cancer · doi:10.1007/s10689-008-9214-8 · Cited by 232 · see citing works
Risk and Epidemiological Time Trends of Gastric Cancer in Lynch Syndrome Carriers in The Netherlands
Capelle, L. G., van Grieken, N. C. T., Lingsma, H. F., et al. (2009) · Gastroenterology · doi:10.1053/j.gastro.2009.10.051 · Cited by 230 · see citing works
Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage
Petersen, G. M., Slack, J., & Nakamura, Y. (1991) · Gastroenterology · doi:10.1016/0016-5085(91)90666-9 · Cited by 230 · see citing works
The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma
Dove‐Edwin, I., Boks, D. E. S., Goff, S., et al. (2002) · Cancer · doi:10.1002/cncr.10380 · Cited by 229 · see citing works
Germline MutY Human Homologue Mutations and Colorectal Cancer: A Multisite Case-Control Study
Cleary, S. P., Cotterchio, M., Jenkins, M. A., Kim, H., Bristow, R. G., Green, R., Haile, R. W., Hopper, J. L., Marchand, L. L., Lindor, N. M., et al. (2008) · Gastroenterology · doi:10.1053/j.gastro.2008.12.050 · Cited by 226 · see citing works
Fundic Gland Polyp Dysplasia Is Common in Familial Adenomatous Polyposis
Bianchi, L. K., Burke, C. A., Bennett, A. E., López, R., Hasson, H., & Church, J. M. (2008) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2007.11.018 · Cited by 225 · see citing works
Self-citation
Colorectal neoplasia in juvenile polyposis or juvenile polyps.
Giardiello, F. M., Hamilton, S. R., Kern, S. E., et al. (1991) · Archives of Disease in Childhood · doi:10.1136/adc.66.8.971 · Cited by 225 · see citing works
Self-citation
Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation
Lubbe, S. J., Bernardo, M. C. D., Chandler, I. P., & Houlston, R. S. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2008.21.6853 · Cited by 223 · see citing works
Results of national registration of familial adenomatous polyposis
Bülow, S. (2003) · Gut · doi:10.1136/gut.52.5.742 · Cited by 218 · see citing works
MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
Wang, L., Baudhuin, L. M., Boardman, L. A., Steenblock, K. J., Petersen, G. M., Halling, K. C., French, A. J., Johnson, R., Burgart, L. J., Rabe, K. G., et al. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.03.070 · Cited by 217 · see citing works
PancPRO: Risk Assessment for Individuals With a Family History of Pancreatic Cancer
Wang, W., Chen, S., Brune, K. A., Hruban, R. H., Parmigiani, G., & Klein, A. P. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2006.09.2452 · Cited by 216 · see citing works
Palladin Mutation Causes Familial Pancreatic Cancer and Suggests a New Cancer Mechanism
Pogue-Geile, K. L., Chen, R., Bronner, M. P., et al. (2006) · PLoS Medicine · doi:10.1371/journal.pmed.0030516 · Cited by 215 · see citing works
Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study
Dove‐Edwin, I., Sasieni, P. D., Adams, J., & Thomas, H. J. W. (2005) · BMJ · doi:10.1136/bmj.38606.794560.eb · Cited by 214 · see citing works
Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management
Lynch, H. T., Lynch, J. F., Lynch, P. M., et al. (2007) · Familial Cancer · doi:10.1007/s10689-007-9165-5 · Cited by 207 · see citing works
Cell cycle activation by c-myc in a Burkitt lymphoma model cell line
Pajic, A., Spitkovsky, D., Christoph, B., Kempkes, B., Schuhmacher, M., Staege, M. S., Brielmeier, M., Ellwart, J. W., Kohlhuber, F., Bornkamm, G. W., et al. (2000) · International Journal of Cancer · doi:10.1002/1097-0215(20000915)87:6 · Cited by 204 · see citing works
The Utility of Capsule Endoscopy Small Bowel Surveillance in Patients with Polyposis
Burke, C. A., Santisi, J. M., Church, J. M., et al. (2005) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.2005.41506.x · Cited by 204 · see citing works
Self-citation
Brain tumor-polyposis syndrome: two genetic diseases?
Paraf, F., Jothy, S., & Meir, E. G. V. (1997) · Journal of Clinical Oncology · doi:10.1200/jco.1997.15.7.2744 · Cited by 202 · see citing works
Selection criteria for genetic assessment of patients with familial melanoma
Leachman, S. A., Carucci, J. A., Kohlmann, W. K., Banks, K. C., Asgari, M. M., Bergman, W., Bianchi‐Scarrà, G., Brentnall, T. A., Paillerets, B. B., Bruno, W., et al. (2009) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2009.03.016 · Cited by 201 · see citing works
Germline Mutations of the APC Gene in Patients with Familial Adenomatous Polyposis-Associated Thyroid Carcinoma: Results from a European Cooperative Study1
Cetta, F., Montalto, G., Gori, M., Curia, M. C., Cama, A., & Olschwang, S. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.1.6254 · Cited by 197 · see citing works
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers
van der Post, R. S., Kiemeney, L. A. L. M., Ligtenberg, M. J. L., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2010.076992 · Cited by 197 · see citing works
Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome
Renkonen‐Sinisalo, L., Bützow, R. C., Leminen, A., et al. (2006) · International Journal of Cancer · doi:10.1002/ijc.22446 · Cited by 197 · see citing works
HNPCC-associated small bowel cancer: Clinical and molecular characteristics
Schulmann, K., Brasch, F. E., Kunstmann, E., Engel, C., Pagenstecher, C., Vogelsang, H., Krüger, S., Vogel, T., Knaebel, H., Rüschoff, J., et al. (2005) · Gastroenterology · doi:10.1053/j.gastro.2004.12.051 · Cited by 196 · see citing works
Hyperplastic Polyps and Sessile Serrated Adenomas as a Phenotypic Expression of MYH-Associated Polyposis
Boparai, K. S., Dekker, E., van Eeden, S., Polak, M. M., Bartelsman, J. F. W. M., Mathus–Vliegen, E. M. H., Keller, J. J., & van Noesel, C. J. M. (2008) · Gastroenterology · doi:10.1053/j.gastro.2008.09.020 · Cited by 195 · see citing works
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis
Burt, R. W., Leppert, M., Slattery, M. L., Samowitz, W. S., Spirio, L. N., Kerber, R. A., Kuwada, S. K., Neklason, D. W., DiSario, J. A., Lyon, E., et al. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.05.003 · Cited by 194 · see citing works
Self-citation
Risk factors for the development of pancreatic cancer in familial pancreatic cancer kindreds
Rulyak, S. J., Lowenfels, A. B., Maisonneuve, P., & Brentnall, T. A. (2003) · Gastroenterology · doi:10.1016/s0016-5085(03)00272-5 · Cited by 191 · see citing works
MUTYH-associated polyposis (MAP)
Nielsen, M., Morreau, H. M., Vasen, H. F. A., & Hes, F. J. (2010) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2010.05.011 · Cited by 191 · see citing works
Genotype–phenotype correlations in Peutz-Jeghers syndrome
Amos, C. I., Keitheri-Cheteri, M. B., Sabripour, M., Wei, C., McGarrity, T. J., Seldin, M. F., Nations, L., Lynch, P. M., Fidder, H. H., Friedman, E., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.010900 · Cited by 190 · see citing works
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients
Riegert‐Johnson, D. L., Gleeson, F. C., Roberts, M. E., Tholen, K., Youngborg, L., Bullock, M., & Boardman, L. A. (2010) · Hereditary Cancer in Clinical Practice · doi:10.1186/1897-4287-8-6 · Cited by 188 · see citing works
High Cumulative Risk of Intussusception in Patients With Peutz–Jeghers Syndrome: Time to Update Surveillance Guidelines?
van Lier, M. G., Mathus-Vliegen, E. M. H., Wagner, A., et al. (2010) · The American Journal of Gastroenterology · doi:10.1038/ajg.2010.473 · Cited by 187 · see citing works
Genetic Testing for Inherited Colon Cancer
Burt, R. W., & Neklason, D. W. (2005) · Gastroenterology · doi:10.1053/j.gastro.2005.03.036 · Cited by 183 · see citing works
Self-citation
Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH
Chow, E. C., Lipton, L. R., Lynch, E. L., D’Souza, R., Aragona, C., Hodgkin, L., Brown, G. J., Winship, I., Barker, M., Buchanan, D. D., et al. (2006) · Gastroenterology · doi:10.1053/j.gastro.2006.03.046 · Cited by 183 · see citing works
Hereditary Diffuse Gastric Cancer: Diagnosis and Management
Blair, V., Martin, I. G., Shaw, D. W., et al. (2006) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2005.12.003 · Cited by 179 · see citing works
The Frequency of Muir-Torre Syndrome Among Lynch Syndrome Families
South, C. D., Hampel, H., Comeras, I., et al. (2008) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djm291 · Cited by 179 · see citing works
Self-citation
Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli
Zwick, A., Munir, M., Ryan, C., et al. (1997) · Gastroenterology · doi:10.1053/gast.1997.v113.pm9247488 · Cited by 179 · see citing works
Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population
Dinh, T. A., Rosner, B. I., Atwood, J. C., Boland, C. R., Syngal, S., Vasen, H. F. A., Gruber, S. B., & Burt, R. W. (2011) · Cancer Prevention Research · doi:10.1158/1940-6207.capr-10-0262 · Cited by 175 · see citing works
Self-citation
Efficacy of Annual Colonoscopic Surveillance in Individuals With Hereditary Nonpolyposis Colorectal Cancer
Engel, C., Rahner, N., Schulmann, K., Holinski‐Feder, E., Goecke, T. O., Schackert, H. K., Kloor, M., Steinke, V., Vogelsang, H., Möslein, G., et al. (2009) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2009.10.003 · Cited by 175 · see citing works
Endoscopic resection of Peutz-Jeghers polyps throughout the small intestine at double-balloon enteroscopy without laparotomy
Ohmiya, N., Taguchi, A., Shirai, K., et al. (2005) · Gastrointestinal Endoscopy · doi:10.1016/s0016-5107(04)02457-5 · Cited by 173 · see citing works
Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation
Giardiello, F. M., Krush, A. J., Petersen, G. M., Booker, S. V., Kerr, M., Tong, L. L., & Hamilton, S. R. (1994) · Gastroenterology · doi:10.1016/0016-5085(94)90408-1 · Cited by 172 · see citing works
Self-citation
Cancer Risks For Mismatch Repair Gene Mutation Carriers: A Population-Based Early Onset Case-Family Study
Jenkins, M. A., Baglietto, L., Dowty, J. G., et al. (2006) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2006.01.002 · Cited by 171 · see citing works
Gynecologic screening in hereditary nonpolyposis colorectal cancer
Rijcken, F. E., Mourits, M. J. E., Kleibeuker, J. H., et al. (2003) · Gynecologic Oncology · doi:10.1016/s0090-8258(03)00371-8 · Cited by 171 · see citing works
Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis
Nielsen, M., van de Beld, M. C. J. , Jones, N., Vogt, S. L., Tops, C. M. J., Vasen, H. F. A., Sampson, J. R., Aretz, S., & Hes, F. J. (2008) · Gastroenterology · doi:10.1053/j.gastro.2008.10.056 · Cited by 170 · see citing works
Elevated Risk of Prostate Cancer Among Men With Lynch Syndrome
Raymond, V. M., Mukherjee, B., Wang, F., Huang, S.-C., Stoffel, E. M., Kastrinos, F., Syngal, S., Cooney, K. A., & Gruber, S. B. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2012.44.1238 · Cited by 170 · see citing works
Self-citation
Hepatoblastoma and APC gene mutation in familial adenomatous polyposis.
Giardiello, F. M., Petersen, G. M., Brensinger, J. D., Luce, M. C., Cayouette, M. C., Bacon, J. A., Booker, S. V., & Hamilton, S. R. (1996) · Gut · doi:10.1136/gut.39.6.867 · Cited by 168 · see citing works
Self-citation
Feasibility and Yield of Screening in Relatives From Familial Pancreatic Cancer Families
Ludwig, E., Olson, S. H., Bayuga, S., Simon, J. A., Schattner, M. A., Gerdes, H., Allen, P. J., Jarnagin, W. R., & Kurtz, R. C. (2011) · The American Journal of Gastroenterology · doi:10.1038/ajg.2011.65 · Cited by 165 · see citing works
Somatic APC mosaicism: an underestimated cause of polyposis coli
Hes, F. J., Nielsen, M., Bik, E. C., et al. (2007) · Gut · doi:10.1136/gut.2006.117796 · Cited by 163 · see citing works
Familial Adenomatous Polyposis: Prevalence of Adenomas in the Ileal Pouch After Restorative Proctocolectomy
Parc, Y. R., Olschwang, S., Desaint, B., et al. (2001) · Annals of Surgery · doi:10.1097/00000658-200103000-00009 · Cited by 162 · see citing works
Hamartomatous polyposis syndromes
Gammon, A., Jasperson, K. W., Kohlmann, W. K., & Burt, R. W. (2009) · Best Practice & Research Clinical Gastroenterology · doi:10.1016/j.bpg.2009.02.007 · Cited by 161 · see citing works
Self-citation
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
Valle, L., Hernández‐Illán, E., Bellido, F., Aiza, G., Castillejo, A., Castillejo, M. I., Navarro, M., Seguí, N., Vargas‐Parra, G., Guarinós, C., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu058 · Cited by 160 · see citing works
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome: Table 1
Volikos, E., Robinson, J., Aittomäki, K., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.039875 · Cited by 158 · see citing works
Hamartomatous Polyposis Syndromes: Molecular Genetics, Neoplastic Risk, and Surveillance Recommendations
Wirtzfeld, D. A., Petrelli, N. J., & Rodrı́guez-Bigas, M. A. (2001) · Annals of Surgical Oncology · doi:10.1007/s10434-001-0319-7 · Cited by 158 · see citing works
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis
Nielsen, M., Hes, F. J., Nagengast, F., et al. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00766.x · Cited by 158 · see citing works
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis
van Hattem, W. A., Brosens, L. A. A., de Leng, W. W. J., Morsink, F. H. M., Lens, S. I., Carvalho, R., Giardiello, F. M., & Offerhaus, G. J. A. (2008) · Gut · doi:10.1136/gut.2007.142927 · Cited by 155 · see citing works
Self-citation
Surveillance of Duodenal Adenomas in Familial Adenomatous Polyposis Reveals High Cumulative Risk of Advanced Disease
Saurin, J., Gutknecht, C., Napoléon, B., et al. (2004) · Journal of Clinical Oncology · doi:10.1200/jco.2004.06.028 · Cited by 155 · see citing works
Genetic Testing for Hereditary Pancreatitis: Guidelines for Indications, Counselling, Consent and Privacy Issues
Ellis, I. O., Lerch, M. M., & Whitcomb, D. C. (2001) · Pancreatology · doi:10.1159/000055840 · Cited by 154 · see citing works
Upper gastrointestinal disease in patients with familial adenomatous polyposis
Wallace, M. H., & Phillips, R. K. S. (1998) · British journal of surgery · doi:10.1046/j.1365-2168.1998.00776.x · Cited by 153 · see citing works
Magnetic Resonance Imaging Surveillance Detects Early-Stage Pancreatic Cancer in Carriers of a p16-Leiden Mutation
Vasen, H. F. A., Wasser, M., van Mil, A., Tollenaar, R. A., Konstantinovski, M., Gruis, N. A., Bergman, W., Hes, F. J., Hommes, D. W., Offerhaus, G. J. A., et al. (2011) · Gastroenterology · doi:10.1053/j.gastro.2010.11.048 · Cited by 152 · see citing works
Gastric Adenocarcinoma Associated With Fundic Gland Polyps in A Patient With Attenuated Familial Adenomatous Polyposis
Hofgärtner, W. T., Thorp, M. L., Ramus, M. W., et al. (1999) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.1999.01312.x · Cited by 152 · see citing works
Hyperplastic Polyposis and the Risk of Colorectal Cancer
Hyman, N., Anderson, P., & Blasyk, H. H. (2004) · Diseases of the Colon & Rectum · doi:10.1007/s10350-004-0709-6 · Cited by 152 · see citing works
Familial pancreatic cancer—current knowledge
Bartsch, D. K., Gress, T. M., & Langer, P. (2012) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2012.111 · Cited by 151 · see citing works
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
Mathers, J. C., Movahedi, M., Macrae, F., Mecklin, J., Moeslein, G., Olschwang, S., Eccles, D., Evans, D. G., Maher, E. R., Bertario, L., et al. (2012) · The Lancet Oncology · doi:10.1016/s1470-2045(12)70475-8 · Cited by 150 · see citing works
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis
Aretz, S., Uhlhaas, S., Caspari, R., et al. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201088 · Cited by 149 · see citing works
Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival.
Järvinen, H. (1992) · Gut · doi:10.1136/gut.33.3.357 · Cited by 148 · see citing works
Hamartomatous Polyposis Syndromes
Calva, D., & Howe, J. R. (2008) · Surgical Clinics of North America · doi:10.1016/j.suc.2008.05.002 · Cited by 147 · see citing works
SomaticAPCmosaicism: a frequent cause of familial adenomatous polyposis (FAP)
Aretz, S., Stienen, D., Friedrichs, N., et al. (2007) · Human Mutation · doi:10.1002/humu.20549 · Cited by 146 · see citing works
A review of Juvenile Polyposis Syndrome
Chow, E. C., & Macrae, F. (2005) · Journal of Gastroenterology and Hepatology · doi:10.1111/j.1440-1746.2005.03865.x · Cited by 145 · see citing works
Rapid Development of Colorectal Neoplasia in Patients With Lynch Syndrome
Edelstein, D. L., Axilbund, J. E., Baxter, M. D., et al. (2010) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2010.10.033 · Cited by 144 · see citing works
Hereditary non-polyposis colorectal cancer — morphologies, genes and mutations
Jass, J. R., Stewart, S. M., Stewart, J. E., et al. (1994) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/0027-5107(94)90016-7 · Cited by 144 · see citing works
German national case collection for familial pancreatic cancer (FaPaCa): ten years experience
Schneider, R., Slater, E. P., Sina, M., Habbe, N., Fendrich, V., Matthäi, E., Langer, P., & Bartsch, D. K. (2011) · Familial Cancer · doi:10.1007/s10689-010-9414-x · Cited by 143 · see citing works
Proportion and Phenotype of MYH-Associated Colorectal Neoplasia in a Population-Based Series of Finnish Colorectal Cancer Patients
Enholm, S., Hienonen, T., Suomalainen, A., Lipton, L. R., Tomlinson, I. P. M., Kärjä, V. J., Eskelinen, M. J., Mecklin, J., Karhu, A., Järvinen, H., et al. (2003) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)63443-8 · Cited by 142 · see citing works
Gastric fundic gland polyps
Burt, R. W. (2003) · Gastroenterology · doi:10.1016/j.gastro.2003.07.017 · Cited by 141 · see citing works
Self-citation
Prevalence of Thyroid Cancer in Familial Adenomatous Polyposis Syndrome and the Role of Screening Ultrasound Examinations
Herráiz, M., Barbesino, G., Faquin, W. C., et al. (2007) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2006.10.019 · Cited by 141 · see citing works
Management of Duodenal Adenomas in 98 Patients with Familial Adenomatous Polyposis
Heiskanen, Kellokumpu, & Järvinen, V. (1999) · Endoscopy · doi:10.1055/s-1999-41 · Cited by 139 · see citing works

Flagged first, then by citations

Research works printed but not linked: 26

[15]Fishel R Lescoe MK Rao MR The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993 75 1027 38 8252616
[40]Howlader N Noone A Krapcho M SEER Cancer Statistics Review, 1975–2009 (Vintage 2009 Populations) 2012 National Cancer Institute Bethesda, MA
[48]de Vos tot Nederveen Cappel W Nagengast FM Griffioen G Surveil-lance for hereditary nonpolyposis colorectal cancer: a long-term study of 114 families. Dis Colon Rectum 2002 45 1588 94 12473880
[52]Haanstra JF de Vos Tot Nederveen Cappel WH Gopie JP Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy. Dis Colon Rectum 2012 55 653 9 22595844
[81]Bussey HJR Familial Polyposis Coli. Family Studies, Histopathology, Differential Diagnosis and Results of Treatment 1975 Johns Hopkins University Press Baltimore
[83]Bulow S Faurschou Nielsen T Bulow C The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register. Int J Colorectal Dis 1996 11 88 91 8739833
[88]Hernegger GS Moore HG Guillem JG Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum 2002 45 127 34 discussion 134-6 11786778
[165]Kadmon M Tandara A Herfarth C Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis 2001 16 63 75 11355321
[170]Brevet M Brehant O Dumont F [Adenomatous polyposis of the gallbladder and Gardner's syndrome. A rare association]. Gastroenterol Clin Biol 2007 31 425 7 17483782
[181]Jeghers H McKusick VA Katz KH Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic significance. N Engl J Med 1949 241 993 15399020
[210]Latchford AR Neale K Phillips RK Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. Dis Colon Rectum 2012 55 1038 43 22965402
[221]Aaltonen LA Jass JR Howe JR Hamilton SR Aaltonen LA Juvenile polyposis. World Health Organization Classification of Tumours 2000 130 2 Pathology and Genetics of Tumours of the Digestive System IARC Press Lyon
[238]Leggett BA Devereaux B Biden K Hyperplastic polyposis: association with colorectal cancer. Am J Surg Pathol 2001 25 177 84 11176066
[240]Burt R Jass JR Hamilton SR Aaltonen LA Hyperplastic polyposis. World Health Organization Classification of Tumours 2000 135 6 Pathology and Genetics of Tumours of the Digestive System IARC Press Lyon
[254]Rosty C Buchanan DD Walsh MD Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics. Am J Surg Pathol 2012 36 876 82 22510757 PMC3354022
[258]Oquinena S Guerra A Pueyo A Serrated polyposis: prospective study of first-degree relatives. Eur J Gastroenterol Hepatol 2013 25 28 32 23011040
[264]Lowenfels AB Maisonneuve P DiMagno EP Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst 1997 89 442 6 9091646
[268]Thompson D Easton DF Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002 94 1358 65 12237281
[269]BCLC The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999 91 1310 6 10433620
[273]Brand RE Lynch HT Hereditary pancreatic adenocarcinoma: a clinical perspective. Med Clin N Am 2000 84 665 75 10872423
[315]Kaurah P Huntsman DG Hereditary diffuse gastric cancer. GeneReviews 4 11 2002 cited; available from http://www.ncbi.nlm.nih.gov/books/NBK1139/ 21 June 2011
[322]Jass J Utsunomiya J Lynch H Pathology of polyposis syndromes with special reference to juvenile polyposis. Hereditary Colorectal Cancer 1990 343 50 Springer Japan
[325]Vasen HF Griffi oen G Offerhaus GJ The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands. Dis Colon Rectum 1990 33 227 30 2155763
[360]Faughnan ME Palda VA Garcia-Tsao G International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011 48 73 87 19553198
[361]Kastrinos F Mukherjee B Tayob N Risk of pancreatic cancer in families with Lynch syndrome. JAMA 2009 302 1790 5 19861671 PMC4091624
[362]Slater E Amrillaeva V Fendrich V Palladin mutation causes familial pancreatic cancer: absence in European families. PLoS Med 2007 4 e164 17455999 PMC1855695

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Authors: Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W.
Affiliations: Brigham and Women's Hospital (US)
University of Pittsburgh Medical Center (US)
Cleveland Clinic (US)
Johns Hopkins University (US)
The Ohio State University (US)
Huntsman Cancer Institute (US)
Corresponding author: Syngal, Sapna
ORCID: Syngal, Sapna
Brand, Randall E
Church, James M
Venue: American Journal of Gastroenterology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2015-02
Volume: 110
Issue: 2
Pages: 223-262
ISSN: 0002-9270 (ISSN-L)
DOI: 10.1038/ajg.2014.435
PMC: PMC4695986
OpenAlex: W2162077547
Cited by: 1,662
References: 326
Citations by year: 2026: 110 · 2025: 118 · 2024: 155 · 2023: 137 · 2022: 172 · 2021: 195 · 2020: 186 · 2019: 160 · 2018: 135 · 2017: 139 · 2016: 110 · 2015: 43
FWCI: 113.05
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
www.springer.com/tdm (unspecified)
Locations: The American Journal of Gastroenterology (publishedVersion, cc-by)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: U.S. Public Health Service (K24-11311)
National Cancer Institute (P30CA006973)
Topics: Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Health Sciences › Medicine › Oncology › Colorectal Cancer Screening and Detection
Keywords: germline genetic testing, Lynch syndrome, familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated polyposis syndrome, hereditary pancreatic cancer, hereditary gastric cancer, cancer surveillance, genetic counseling, family history assessment, cancer susceptibility
MeSH terms: Colorectal Neoplasms, Hereditary Nonpolyposis, Gastrointestinal Neoplasms, Genetic Testing, Hamartoma Syndrome, Multiple, Humans, Neoplastic Syndromes, Hereditary, Peutz-Jeghers Syndrome, Adenomatous Polyposis Coli, Disease Management, Intestinal Polyposis

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ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

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