AGA Clinical Practice Update on Colorectal and Pancreatic Cancer Risk and Screening in BRCA1 and BRCA2 carriers: Commentary.

Genetic testing for hereditary cancer syndromes is becoming increasingly common. Carriers of BRCA1 or BRCA2 pathogenic variants (i.e., mutations) are among the most commonly identified in hereditary cancer risk assessment. BRCA1 and BRCA2 encode proteins involved in homologous recombination and double-stranded DNA break repair. Germline pathogenic variants in BRCA1 and BRCA2 are highly penetrant for breast cancer and ovarian cancer, conferring lifetime risks of up to 85% of breast cancer and 20-40% for ovarian cancer1 and have implications for efficacy of targeted therapies in several cancers2. Pathogenic variants in BRCA1 and BRCA2 have also been associated with variable risk of gastrointestinal (GI) cancer, including colorectal (CRC), pancreatic ductal adenocarcinoma (PDAC), biliary and gastric cancers3, 4

[1]  Walter G. Park,et al.  Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium , 2019, Gut.

[2]  J. Vadgama,et al.  PARP Inhibitors as a Therapeutic Agent for Homologous Recombination Deficiency in Breast Cancers , 2019, Journal of clinical medicine.

[3]  J. Lee,et al.  The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans , 2019, Hereditary cancer in clinical practice.

[4]  A. Barkun,et al.  Clinical Practice Guideline on Screening for Colorectal Cancer in Individuals With a Family History of Nonhereditary Colorectal Cancer or Adenoma: The Canadian Association of Gastroenterology Banff Consensus. , 2018, Gastroenterology.

[5]  J. Jeter,et al.  BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis , 2018, Journal of the National Cancer Institute.

[6]  E. Fishman,et al.  Risk of Neoplastic Progression in Individuals at High Risk for Pancreatic Cancer Undergoing Long-term Surveillance. , 2018, Gastroenterology.

[7]  Raymond M. Moore,et al.  Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer , 2018, JAMA.

[8]  E. Friedman,et al.  Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers , 2018, European Journal of Human Genetics.

[9]  S. Gruber,et al.  Germline Genetic Features of Young Individuals With Colorectal Cancer. , 2017, Gastroenterology.

[10]  David Lieberman,et al.  Colorectal Cancer Screening: Recommendations for Physicians and Patients From the U.S. Multi-Society Task Force on Colorectal Cancer. , 2017, Gastroenterology.

[11]  P. Goodfellow,et al.  Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer , 2017, JAMA oncology.

[12]  Hajime Uno,et al.  Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. , 2017, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[13]  Y. Ye,et al.  Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers. , 2016, The oncologist.

[14]  B. Arun,et al.  Cancers Associated with Brca1 and Brca2 Mutations Other than Breast and Ovarian Cancers Associated with Brca1 and Brca2 Mutations Other than Breast and Ovarian , 2022 .

[15]  Charis Eng,et al.  Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study , 2013, British Journal of Cancer.

[16]  N. Malats,et al.  Risk of Pancreatic Cancer in Breast Cancer Families from the Breast Cancer Family Registry , 2013, Cancer Epidemiology, Biomarkers & Prevention.

[17]  P. Møller,et al.  The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers , 2012, British Journal of Cancer.

[18]  Sofia Khan,et al.  Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations , 2012, Familial Cancer.

[19]  Anna Jakubowska,et al.  BRCA1 mutations and colorectal cancer in Poland , 2010, Familial Cancer.

[20]  Ayala Hubert,et al.  Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations , 2007, Journal of Medical Genetics.

[21]  Barry Rosen,et al.  Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. , 2006, Journal of the National Cancer Institute.

[22]  J. C. Houwelingen,et al.  Cancer risks in BRCA2 families: estimates for sites other than breast and ovary , 2005, Journal of Medical Genetics.

[23]  J. Satagopan,et al.  Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. , 2004, Journal of the National Cancer Institute.

[24]  Ronit Almog,et al.  BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer. , 2004, Journal of the National Cancer Institute.

[25]  T. Rebbeck,et al.  Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. , 2002, Journal of the National Cancer Institute.

[26]  Douglas F Easton,et al.  Cancer Incidence in BRCA1 mutation carriers. , 2002, Journal of the National Cancer Institute.

[27]  E. Friedman,et al.  The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients , 2001, British Journal of Cancer.

[28]  H. Lynch,et al.  Colorectal cancer in hereditary breast cancer kindreds , 1999, Diseases of the colon and rectum.

[29]  D. Easton,et al.  Risks of cancer in BRCA1-mutation carriers , 1994, The Lancet.

[30]  S. Friedman,et al.  NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. , 2017, Journal of the National Comprehensive Cancer Network : JNCCN.

[31]  L. Drucker,et al.  Incidence of BRCA1 and BRCA2 mutations in Ashkenazi colorectal cancer patients: preliminary study. , 2000, Anticancer research.

[32]  H. Olsson.  Cancer risks in BRCA2 mutation carriers. , 1999, Journal of the National Cancer Institute.