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

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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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Research works printed but not linked: 22

  1. Fishel, 1993, The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer., Cell, 75, 1027, 10.1016/0092-8674(93)90546-3 · DOI
  2. de Vos tot Nederveen Cappel, 2002, Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study of 114 families., Dis Colon Rectum, 45, 1588, 10.1007/s10350-004-7244-3 · DOI
  3. Haanstra, 2012, Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy., Dis Colon Rectum, 55, 653, 10.1097/DCR.0b013e31824f5392 · DOI
  4. Bulow, 1996, The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register., Int J Colorectal Dis, 11, 88, 10.1007/BF00342466 · DOI
  5. Kadmon, 2001, Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register., Int J Colorectal Dis, 16, 63, 10.1007/s003840100290 · DOI
  6. Walsh, 1987, Biliary neoplasia in Gardners syndrome., Arch Pathol Lab Med, 111, 76
  7. Brevet, 2007, Adenomatous polyposis of the gallbladder and Gardners syndrome. A rare association., Gastroenterol Clin Biol, 31, 425, 10.1016/S0399-8320(07)89404-8 · DOI
  8. Jeghers, 1949, Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic significance., N Engl J Med, 241, 993, 10.1056/NEJM194912222412501 · DOI
  9. Jasperson, 2007, Inherited risk for colorectal cancer: practical approaches for identification, referral and management., Pract Gastroenterol, 31, 37
  10. Latchford, 2012, Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome., Dis Colon Rectum, 55, 1038, 10.1097/DCR.0b013e31826278b3 · DOI
  11. Leggett, 2001, Hyperplastic polyposis: association with colorectal cancer., Am J Surg Pathol, 25, 177, 10.1097/00000478-200102000-00005 · DOI
  12. Rosty, 2012, Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics., Am J Surg Pathol, 36, 876, 10.1097/PAS.0b013e31824e133f · DOI
  13. Oquinena, 2013, Serrated polyposis: prospective study of first-degree relatives., Eur J Gastroenterol Hepatol, 25, 28, 10.1097/MEG.0b013e3283598506 · DOI
  14. Lowenfels, 1997, Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group., J Natl Cancer Inst, 89, 442, 10.1093/jnci/89.6.442 · DOI · Paper page
  15. Thompson, 2002, Cancer incidence in BRCA1 mutation carriers., J Natl Cancer Inst, 94, 1358, 10.1093/jnci/94.18.1358 · DOI
  16. 1999, The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers., J Natl Cancer Inst, 91, 1310, 10.1093/jnci/91.15.1310 · DOI
  17. Brand, 2000, Hereditary pancreatic adenocarcinoma: a clinical perspective., Med Clin N Am, 84, 665, 10.1016/S0025-7125(05)70249-2 · DOI
  18. Vasen, 1990, The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands., Dis Colon Rectum, 33, 227, 10.1007/BF02134185 · DOI
  19. Korsse, 2013, Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance., J Med Genet, 50, 59, 10.1136/jmedgenet-2012-101277 · DOI
  20. Faughnan, 2011, International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia., J Med Genet, 48, 73, 10.1136/jmg.2009.069013 · DOI
  21. Kastrinos, 2009, Risk of pancreatic cancer in families with Lynch syndrome., JAMA, 302, 1790, 10.1001/jama.2009.1529 · DOI · Paper page
  22. Slater, 2007, Palladin mutation causes familial pancreatic cancer: absence in European families., PLoS Med, 4, e164, 10.1371/journal.pmed.0040164 · DOI

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Metadata

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
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
Licence
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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