Cited by 492Pancreatic and Hepatic Oncology ResearchGenetic factors in colorectal cancerBRCA gene mutations in cancer

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ATM Mutations in Patients with Hereditary Pancreatic Cancer

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Roberts, Nicholas J., Jiao, Yuchen, Yu, Jun, Kopelovich, Levy, Petersen, Gloria M., Bondy, Melissa L., Gallinger, Steven, Schwartz, Ann G., Syngal, Sapna, Cote, Michele L., Axilbund, Jennifer, Schulick, Richard, Ali, Syed Z., Eshleman, James R., Velculescu, Victor E., Goggins, Michael, Vogelstein, Bert, Papadopoulos, Nickolas, Hruban, Ralph H., Kinzler, Kenneth W., Klein, Alison P.·2012·Cancer Discovery

DOI 10.1158/2159-8290.cd-11-0194PMC PMC3676748

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Abstract

Pancreatic cancers are the fourth most-common cause of cancer-related deaths in the Western world, with >200,000 cases reported in 2010. Although up to 10% of these cases occur in familial patterns, the hereditary basis for predisposition in the vast majority of affected families is unknown. We used next-generation sequencing, including whole-genome and whole-exome analyses, and identified heterozygous, constitutional, ataxia telangiectasia mutated (ATM) gene mutations in 2 kindreds with familial pancreatic cancer. Mutations segregated with disease in both kindreds and tumor analysis demonstrated LOH of the wild-type allele. By using sequence analysis of an additional 166 familial pancreatic cancer probands, we identified 4 additional patients with deleterious mutations in the ATM gene, whereas we identified no deleterious mutations in 190 spouse controls (P = 0.046). When we considered only the mostly severely affected families with 3 or more pancreatic cancer cases, 4 deleterious mutations were found in 87 families (P = 0.009). Our results indicate that inherited ATM mutations play an important role in familial pancreatic cancer predisposition. Significance: The genes responsible for the majority of cases of familial pancreatic ductal adenocarcinoma are unknown. We here identify ATM as a predisposition gene for pancreatic ductal adenocarcinoma. Our results have important implications for the management of patients in affected families and illustrate the power of genome-wide sequencing to identify the basis of familial cancer syndromes. Cancer Discovery; 2(1): 41–6. ©2011 AACR. Read the Commentary on this article by Bakker and de Winter, p. 14 This article is highlighted in the In This Issue feature, p. 1

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SEER Cancer Statistics Review, 1975-2003
Ries, L. A. G., Harkins, D., Krapcho, M. F., Mariotto, A. B., Miller, B., Feuer, E. J., Clegg, L. X., Eisner, M. P., Horner, M., Howlader, N., et al. (2006) · Digital Archive @ GSU · Cited by 11,404
Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy
Farmer, H., McCabe, N., Lord, C. J., Tutt, A. N. J., Johnson, D. A., Richardson, T. B., Santarosa, M., Dillon, K. J., Hickson, I., Knights, C., et al. (2005) · Nature · doi:10.1038/nature03445 · Cited by 6,683
Inhibition of Poly(ADP-Ribose) Polymerase in Tumors from BRCA Mutation Carriers
Fong, P. C., Boss, D. S., Yap, T. A., Tutt, A., Wu, P., Mergui-Roelvink, M., Mortimer, P., Swaisland, H., Lau, A., O'Connor, M. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0900212 · Cited by 3,634
The Consensus Coding Sequences of Human Breast and Colorectal Cancers
Sjöblom, T., Jones, S., Wood, L. D., Parsons, D. W., Lin, J., Barber, T. D., Mandelker, D. L., Leary, R. J., Ptak, J., Silliman, N., et al. (2006) · Science · doi:10.1126/science.1133427 · Cited by 3,161
Self-citation
DAXX / ATRX , MEN1 , and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors
Jiao, Y., Shi, C., Edil, B. H., de Wilde, R. F., Klimstra, D. S., Maitra, A., Schulick, R. D., Tang, L. H., Wolfgang, C. L., Choti, M. A., et al. (2011) · Science · doi:10.1126/science.1200609 · Cited by 1,744
Self-citation
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
Lavin, M. F. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2514 · Cited by 901
The Human Gene Mutation Database: 2008 update
Stenson, P. D., Mort, M., Ball, E. V., Howells, K., Phillips, A. D., Thomas, N. S., & Cooper, D. N. (2009) · Genome Medicine · doi:10.1186/gm13 · Cited by 873
Exomic Sequencing Identifies PALB2 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 · cited 1×
“Unbiased, genome-wide sequencing can be used to identify familial pancreatic genes, as demonstrated by the finding that PALB2 is a pancreatic cancer susceptibility gene (3).”
BackgroundSelf-citation
Breast and Other Cancers in Families with Ataxia-Telangiectasia
Swift, M., Reitnauer, P. J., Morrell, D., & Chase, C. L. (1987) · New England Journal of Medicine · doi:10.1056/nejm198705213162101 · Cited by 717
The human gene mutation database
Cooper, D. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.1.285 · Cited by 604

Show all 30 references

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“The focus of this article will be inherited pancreatic cancer syndromes and familial pancreatic cancer, which together compose up to 10% of PDAC.”
BackgroundInfluential
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Background
Network‐based integration of mRNA and miRNA profiles reveals new target genes involved in pancreatic cancer
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Hutchings, D., Jiang, Z., Skaro, M. F., Weiss, M. J., Wolfgang, C. L., Makary, M. A., He, J. P., Cameron, J. L., Zheng, L., Klimstra, D. S., et al. (2019) · Modern Pathology · doi:10.1038/s41379-019-0317-6 · Cited by 26
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“For instance, autosomal recessive ataxiatelangiectasia is associated with an increased risk of several cancers, including PDAC (12).”
Background
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Wu, L., Schaid, D. J., Sicotte, H., Wieben, E. D., Li, H., & Petersen, G. M. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102697 · Cited by 25
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“Most recently, germline mutations in ATM (encoding the protein kinase Ataxia telangiectasia mutated) have been described in subsets of familial pancreatic cancer families [40].”
Background
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Paiella, S., Azzolina, D., Gregori, D., Malleo, G., Golan, T., Simeone, D. M., Davis, M., Vacca, P., Crovetto, A., Bassi, C., et al. (2023) · ESMO Open · doi:10.1016/j.esmoop.2023.100881 · Cited by 23
“2016 Japan 54 2002-2013 R Adv Asian, 100% Yes Yes Roberts et al.(109) 2016 USA 638 NR R-B NR White, 96% African American, 2.”
Influential
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Background
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“Moreover, individuals with germline pathogenic ATM variants appear to have an increased lifetime risk of pancreatic cancer [19,20].”
Background
Clinical Characteristics of Patients With Pancreatic Cancer and Pathogenic ATM Alterations
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“ATM gene products are recruited to repair DNA doublestrand breaks through homologous recombination via the BRCA1 pathway and nonhomologous end-joining as well as cell cycle checkpoint modulation (12-14).”
Background
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Background
Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62
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“However, new and different germline mutations, including PALB2 and ATM [23, 24], have been recently identified.”
Background
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“Some of them correspond to known syndromes with germline mutations in genes associated with cancer predisposition syndromes, such as BRCA2 [78], PALB2 [79] and ATM [80] (Table 3).”
Background
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“…KRAS, CHEK2, BARD1, BRCA1, and BRCA2 [57], the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 [58], and CDKN2A, NBN, SMAD4, ATM [59], PALB2 [60] STK11 [61], TP53, and MUTYH/MYH [62] are some of the genes associated with PC. Based on genomic analysis, KRAS, CHEK2, BARD1, BRCA1,…”
Background
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Petkova, R., Chelenkova, P., Georgieva, E., & Chakarov, S. (2013) · Biotechnology & Biotechnological Equipment · doi:10.5504/bbeq.2013.0097 · Cited by 13
Hereditary gastric and pancreatic cancer predisposition syndromes
Leoz, M. L., Sánchez, A., Carballal, S., Ruano, L., Ocaña, T., Pellisé, M., Castells, A., Balaguer, F., & Moreira, L. (2016) · Gastroenterología y Hepatología (English Edition) · doi:10.1016/j.gastre.2016.06.010 · Cited by 14
Pancreatic Cancer Exposome Profile to Aid Early Detection and Inform Prevention Strategies
Monroy‐Iglesias, M. J., Dolly, S. O., Sarker, D., Thillai, K., Hemelrijck, M. V., & Santaolalla, A. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10081665 · Cited by 15
Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis
Buono, A. D., Poliani, L., Greco, L., Bianchi, P. P., Barile, M., Giatti, V., Bonifacio, C., Carrara, S., Malesci, A., & Laghi, L. (2023) · Cancers · doi:10.3390/cancers15061852 · Cited by 17
Clinical importance of Familial Pancreatic Cancer Registry in Japan: a report from kick‐off meeting at International Symposium on Pancreas Cancer 2012
Wada, K., Takaori, K., Traverso, L. W., Hruban, R. H., Furukawa, T., Brentnall, T. A., Hatori, T., Sano, K., Takada, T., Majima, Y., et al. (2013) · Journal of Hepato-Biliary-Pancreatic Sciences · doi:10.1007/s00534-013-0611-5 · Cited by 14
“Familial Pancreatic Cancer (FPC) PALB2, ATM AD Not known Not known [100, 101]”
BackgroundSelf-citation
A population-based analysis of clustering identifies a strong genetic contribution to lethal prostate cancer
Nelson, Q., Agarwal, N., Stephenson, R. A., & Cannon‐Albright, L. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00152 · Cited by 14
“Recent evidence has shown the advisability and efficiency of rare predisposition gene identification by study of extended pedigrees (Ewing et al., 2012; Roberts et al., 2012).”
Background
A new paradigm of genetic testing for hereditary breast/ovarian cancers
Kwong, A., Chen, J. W., & Shin, V. Y. (2016) · Hong Kong Medical Journal · doi:10.12809/hkmj154634 · Cited by 17
Translational genomics in pancreatic ductal adenocarcinoma: A review with re-analysis of TCGA dataset
Ho, J., Li, X., Zhang, L., Liang, Y., Hu, W., Yau, J. C. W., Chan, H., Gin, T., Chan, M. T. V., Tse, G., et al. (2018) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2018.04.004 · Cited by 14
ATM-deficient lung, prostate and pancreatic cancer cells are acutely sensitive to the combination of olaparib and the ATR inhibitor AZD6738
Jette, N., Radhamani, S., Ye, R., Yu, Y., Arthur, G., Goutam, S., Bismar, T. A., Kumar, M., Bose, P., Yip, S., et al. (2020) · Genome Instability & Disease · doi:10.1007/s42764-020-00011-0 · Cited by 14
“ATM is mutated in some hereditary forms of pancreatic cancer (Grant et al. 2014; Roberts et al. 2012) as well as ~ 6% of sporadic pancreatic adenocarcinoma, with 4% of overall mutations resulting in deletion of the ATM protein (Kim et al.”
Background
Pancreatic cancer
Roth, S., Apte, M. V., Balachandran, V. P., Biffi, G., Conroy, T., Cukierman, E., Dotan, E., Esposito, I., Grünwald, B. T., Klauß, M., et al. (2026) · Nature Reviews Disease Primers · doi:10.1038/s41572-026-00699-6 · Cited by 19
Self-citation
Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers
Martinez, E., Silvy, F., Fina, F., Bartoli, M., Krahn, M., Barlési, F., Figarella‐Branger, D., Iovanna, J., Laugier, R., Ouaïssi, M., et al. (2015) · Oncotarget · doi:10.18632/oncotarget.5627 · Cited by 13
“BCRA1 and the ataxia telangiectasia (ATM) gene were also mutated in patients with hereditary PC [21, 22].”
Background
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review
Pantaleo, A., Forte, G., Fasano, C., Signorile, M. L., Sanese, P., Marco, K. D., Nicola, E. D., Latrofa, M., Grossi, V., Disciglio, V., et al. (2023) · Cancers · doi:10.3390/cancers16010056 · Cited by 15
“Importantly, monoallelic ATM germline alterations have also been reported in familial and sporadic cases of PDAC [67].”
Background
ATM is required for the repair of Topotecan-induced replication-associated double-strand breaks
Köcher, S., Spies-Naumann, A., Kriegs, M., Dahm‐Daphi, J., & Dornreiter, I. (2013) · Radiotherapy and Oncology · doi:10.1016/j.radonc.2013.06.024 · Cited by 14
Intraductal papillary mucinous neoplasm in a neonate with congenital hyperinsulinism and a de novo germline SKIL gene mutation
Jiao, Y., Lumpkins, K. M., Terhune, J. H., Hruban, R. H., Klein, A. P., Kinzler, K. W., Papadopoulos, N., Vogelstein, B., & Strauch, E. D. (2014) · Pancreatology · doi:10.1016/j.pan.2014.10.009 · Cited by 13
Self-citation
Screening of Patients at Risk for Familial Pancreatic Cancer
Torphy, R. J., & Schulick, R. D. (2017) · Surgical Clinics of North America · doi:10.1016/j.suc.2017.09.003 · Cited by 13
Self-citation
Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer
Slater, E. P., Wilke, L. M., Böhm, L. B., Strauch, K., Lutz, M., Krasser‐Gercke, N., Matthäi, E., Hemminki, K., Försti, A., Schlesner, M., et al. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11070631 · Cited by 14
“This prevalence lies within the reported range, between 2.2% (4/166) [31] and 5% (4/81) [32], from previous studies on FPC.”
Influential
Synthetic Cytotoxicity: Digenic Interactions with TEL1/ATM Mutations Reveal Sensitivity to Low Doses of Camptothecin
Li, X., O’Neil, N. J., Moshgabadi, N., & Hieter, P. (2014) · Genetics · doi:10.1534/genetics.114.161307 · Cited by 13
“…a frequency of 1/40,000, up to 1% of the population could be heterozygous carriers of ATM mutations, and these carrier individuals are estimated to have an increased risk of pancreatic cancer and breast cancer (Savitsky et al. 1995; Thompson et al. 2005; Renwick et al. 2006; Roberts et al. 2012).”
Background
Epidemiology of Pancreatic Cancer
Mocci, E., & Klein, A. P. (2018) · doi:10.1002/9781119188421.ch88 · Cited by 14
Self-citation
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants
Chen, X., Meyer, M. A., Kemppainen, J. L., Horibe, M., Chandra, S., Majumder, S., Petersen, G. M., & Rabe, K. G. (2023) · JAMA Oncology · doi:10.1001/jamaoncol.2023.0806 · Cited by 14
Self-citation
Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers
Matsubayashi, H., Kiyozumi, Y., Ishiwatari, H., Uesaka, K., Kikuyama, M., & Ono, H. (2019) · Diagnostics · doi:10.3390/diagnostics9040169 · Cited by 12
“Recently, variants of genes functioning in the homologous recombination (HR) pathway have been considered not only in terms of surveillance, but also as they relate to treatments [41]: ATM (variant rate: 2–4%) [42,43], BRCA1 (0–7%) [44,45], BRCA2 (4–17%) [15,43,46], CHEK2 (1–6%) [47], PALB2 (1–4%) [43,48,49], and RAD5…”
Background
ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications
Jabbour, T. E., Misyura, M., Cowzer, D., Zimmermann, M., Rimkunas, V. M., Marra, A., Derakhshan, F. N., Selenica, P., Parilla, M., Setton, J. S., et al. (2022) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djac024 · Cited by 13
Ataxia-telangiectasia–Mutated Protein Kinase Levels Stratify Patients With Pancreatic Adenocarcinoma Into Prognostic Subgroups With Loss Being a Strong Indicator of Poor Survival
Kamphues, C., Bova, R., Bahra, M., Klauschen, F., Muckenhuber, A., Sinn, B. V., Warth, A., Goeppert, B. F., Endris, V., Neuhaus, P., et al. (2014) · Pancreas · doi:10.1097/mpa.0000000000000248 · Cited by 12
“The fact that loss of ATM function plays a pivotal role in PDAC tumor progression is underscored by a very recent report that showed deleterious germline mutations in the ATM gene as well as a case with an ATM-double hit by the occurrence of LOH.(14,15) Moreover, Biankin and colleagues(13) reported ATM aberrations (LO…”
Background
Screening guidelines and recommendations for patients at high risk of developing endocrine cancers
Geurts, J. L., Strong, E. A., Wang, T. S., Evans, D. B., & Clarke, C. N. (2020) · Journal of Surgical Oncology · doi:10.1002/jso.25869 · Cited by 12
“Heterozygotes also carry an attenuated increased risk of developing breast cancers and PDAC largely due to loss of heterozygosity.(54,55) Lynch syndrome is an autosomal dominant syndrome that results from mutations in DNA mismatch repair genes and is associated with the development of colorectal cancer.”
Background
Establishing a Clinic-Based Pancreatic Cancer and Periampullary Tumour Research Registry in Quebec
Smith, A. L., Bascuñana, C., Hall, A., Salman, A., Andrei, A.-Z., Volenik, A., Rothenmund, H., Ferland, D., Lamoussenery, D., Kamath, A. S., et al. (2015) · Current Oncology · doi:10.3747/co.22.2300 · Cited by 12
Self-citation
A Role for ATM in Hereditary Pancreatic Cancer
Bakker, J. L., & de Winter, J. P. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-11-0318 · Cited by 11
“The study by Roberts and colleagues (3) now adds ATM to this list of genes involved in both breast and pancreatic cancer.”
BackgroundMethodInfluential
Screening for Pancreatic Cancer in High-risk Populations
Grover, S., & Jajoo, K. (2016) · Gastroenterology Clinics of North America · doi:10.1016/j.gtc.2015.10.001 · Cited by 11
Prédisposition héréditaire au cancer du sein (1)
Cohen‐Haguenauer, O. (2019) · médecine/sciences · doi:10.1051/medsci/2019003 · Cited by 12
Effects of the MDM-2 inhibitor Nutlin-3a on PDAC cells containing and lacking WT-TP53 on sensitivity to chemotherapy, signal transduction inhibitors and nutraceuticals
Candido, S., Abrams, S. L., Steelman, L. S., Lertpiriyapong, K., Martelli, A. M., Cocco, L., Ratti, S., Follo, M. Y., Murata, R. M., Rosalen, P. L., et al. (2019) · Advances in Biological Regulation · doi:10.1016/j.jbior.2019.03.002 · Cited by 11
The Use of Genetically Engineered Mouse Models for Studying the Function of Mutated Driver Genes in Pancreatic Cancer
Weng, C., Lin, Y., & Cheng, K. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8091369 · Cited by 12
Molecular and Genetic Basis of Pancreatic Carcinogenesis
Bernard, V., Fleming, J. B., & Maitra, A. (2016) · Surgical Oncology Clinics of North America · doi:10.1016/j.soc.2015.11.003 · Cited by 13
Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer
Prodosmo, A., Buffone, A., Mattioni, M., Barnabei, A., Persichetti, A., Leo, A. D., Appetecchia, M., Nicolussi, A., Coppa, A., Sciacchitano, S., et al. (2016) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-016-0410-3 · Cited by 11
“Besides early onset-breast cancer, ATM carriers have been reported to be more susceptible to other types of cancer, such as digestive tract, lung, and thyroid cancers [2, 8].”
Familial Pancreatic Cancer
Klein, A. P. (2023) · Wiley eBooks · doi:10.1002/9781119876007.ch124 · Cited by 11
Self-citation
Familial Breast Cancer Risk
Maxwell, K. N., & Domchek, S. M. (2013) · Current Breast Cancer Reports · doi:10.1007/s12609-013-0117-9 · Cited by 10
“6 %) of familial pancreatic cancer families were found to have ATM mutations [124].”
Association of Pancreatic Cancer Susceptibility Variants with Risk of Breast Cancer in Women of European and African Ancestry
Wang, S., Zheng, Y., Ogundiran, T. O., Ojengbede, O. A., Zheng, W., Nathanson, K. L., Nemesure, B. B., Ambs, S., Olopade, O. I., & Huo, D. (2017) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-17-0755 · Cited by 10
EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer
Katona, B. W., Long, J. M., Ahmad, N. A., Attalla, S., Bradbury, A. R., Carpenter, E. L., Clark, D. F., Constantino, G., Das, K. K., Domchek, S. M., et al. (2021) · Cancer Prevention Research · doi:10.1158/1940-6207.capr-21-0161 · Cited by 10
Mechanisms of Gastrointestinal Malignancies
Katona, B. W., & Lynch, J. P. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-809954-4.00066-9 · Cited by 11
Two novel variants in the ATM gene causing ataxia‐telangiectasia, including a duplication of 90 kb: Utility of targeted next‐generation sequencing in detection of copy number variation
Martín-Rodríguez, S., Calvo‐Ferrer, A., Ortega‐Unanue, N., Samaniego‐Jimenez, L., Sanz‐Izquierdo, M., & Bernardo, I. (2019) · Annals of Human Genetics · doi:10.1111/ahg.12312 · Cited by 10
“…carriers: although ATM mutation carriers do not present A-T phenotype, they have increased risk of developing malignancies, particularly breast cancer (Buys et al., 2017), leukemia (Bullrich et al., 1999), lymphoma (Oguchi, Takagi, & Tsichida, 2003), and pancreatic cancer (Roberts et al., 2012).”
Background
Pancreatic Cancer Surveillance: Who, When, and How
Dudley, B., & Brand, R. E. (2019) · Current Treatment Options in Gastroenterology · doi:10.1007/s11938-019-00247-0 · Cited by 12
DNA damage response and repair in pancreatic cancer development and therapy
Farnood, P. R., Pazhooh, R. D., Asemi, Z., & Yousefi, B. (2021) · DNA repair · doi:10.1016/j.dnarep.2021.103116 · Cited by 11
Pancreatic Cancer Surveillance and Novel Strategies for Screening
Dudley, B., & Brand, R. E. (2021) · Gastrointestinal Endoscopy Clinics of North America · doi:10.1016/j.giec.2021.08.008 · Cited by 10
Pancreatic Cancer Genomes: Toward Molecular Subtyping and Novel Approaches to Diagnosis and Therapy
Wood, L. D. (2013) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-013-0043-6 · Cited by 10
Germline testing for homologous recombination repair genes—opportunities and challenges
Hirsch, S., Gieldon, L., Sutter, C., Dikow, N., & Schaaf, C. P. (2020) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22900 · Cited by 12
“6%; ATM 2,4%).(41,42) Due to limited treatment options and the poor outcome for pancreatic ductal adenocarcinoma, many centers now consider germline testing of HRR genes for all patients in order to identify those who might benefit from the use of PARP inhibition as an additional treatment option.”
Background

Authors: 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., Axilbund, J., Schulick, R., Ali, S. Z., Eshleman, J. R., Velculescu, V. E., Goggins, M., Vogelstein, B., Papadopoulos, N., Hruban, R. H., Kinzler, K. W., & Klein, A. P.
Affiliations: Brigham and Women's Hospital (US)
Authors' Affiliations: 1Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center; Departments of 2Medicine, 3Pathology, 4Surgery, and 5Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions; 6Department of Epidemiology, Bloomberg School of Public Health, The Johns Hopkins University, Baltimore, Maryland; 7Division of Cancer Prevention, National Cancer Institute, Bethesda, Maryland; 8Division of Epidemiology, Mayo Clinic, Rochester, Minnesota; 9Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas; 10Hepatobiliary/Pancreatic Surgical Oncology Program, University Health Network, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada; 11Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan; 12Population Sciences Division, Dana-Farber Cancer Institute, and Gastroenterology Division, Brigham and Women's Hospital, Boston, Massachusetts
Mayo Clinic (US)
Corresponding author: Hruban, Ralph H.
Kinzler, Kenneth W.
Klein, Alison P.
ORCID: Roberts, Nicholas J.
Jiao, Yuchen
Yu, Jun
Petersen, Gloria M.
Bondy, Melissa L.
Schwartz, Ann G.
Syngal, Sapna
Schulick, Richard
Ali, Syed Z.
Eshleman, James R.
Velculescu, Victor E.
Goggins, Michael
Vogelstein, Bert
Papadopoulos, Nickolas
Hruban, Ralph H.
Kinzler, Kenneth W.
Klein, Alison P.
Venue: Cancer Discovery
Publisher: American Association for Cancer Research (AACR)
Published: 2012-01-01
Volume: 2
Issue: 1
Pages: 41-46
ISSN: 2159-8274 (ISSN-L)
2159-8290
DOI: 10.1158/2159-8290.cd-11-0194
PMC: PMC3676748
OpenAlex: W2146542392
Cited by: 491
References: 30
Citations by year: 2026: 13 · 2025: 11 · 2024: 22 · 2023: 27 · 2022: 30 · 2021: 49 · 2020: 36 · 2019: 43 · 2018: 42 · 2017: 38 · 2016: 49 · 2015: 41 · 2014: 38 · 2013: 31 · 2012: 20
FWCI: 14.03
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Cancer Discovery (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (n01pc35145-19-0-7, n01cn43302-6-0-1, 5r01ca121113-15)
National Cancer Institute (N01 CN043302, R01CA-97075, CA123483, R01CA123483, R01-CA121113, N01 PC035145, CA-121113, N01 PC 35145, CA057345, P50CA102701, R01CA057345, R01CA097075, N01-CN 43302, P50CA062924, R37CA057345, CA 62924)
Topics: Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
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
Keywords: ATM gene, hereditary pancreatic cancer, pancreatic ductal adenocarcinoma, hereditary cancer predisposition, loss of heterozygosity, constitutional mutation, cancer susceptibility genes, hereditary cancer
MeSH terms: Ataxia Telangiectasia, DNA-Binding Proteins, Humans, Mutation, Pancreatic Neoplasms, Pedigree, Protein Serine-Threonine Kinases, Cell Cycle Proteins, Genetic Predisposition to Disease, Carcinoma, Pancreatic Ductal, Tumor Suppressor Proteins, Genome-Wide Association Study, Exome, Ataxia Telangiectasia Mutated Proteins

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ATM Mutations in Patients with Hereditary Pancreatic Cancer

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