The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers

, the Hereditary Breast Cancer Study Group; Iqbal, J; Ragone, A; Lubinski, J; Lynch, H T; Moller, P; Ghadirian, P; Foulkes, W D; Armel, S; Eisen, A; Neuhausen, S L; Senter, L; Singer, C F; Ainsworth, P; Kim-Sing, C; Tung, N; Friedman, E; Llacuachaqui, M; Ping, S; Narod, S A

doi:10.1038/bjc.2012.483

Cited by 252BRCA gene mutations in cancerPancreatic and Hepatic Oncology ResearchGenetic factors in colorectal cancer

The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers

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, the Hereditary Breast Cancer Study Group, Iqbal, J, Ragone, A, Lubinski, J, Lynch, H T, Moller, P, Ghadirian, P, Foulkes, W D +12 more·2012·British Journal of Cancer

DOI 10.1038/bjc.2012.483PMC PMC3516682

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Abstract

BACKGROUND: Germline mutations in BRCA1 and BRCA2 predispose to pancreatic cancer. We estimated the incidence of pancreatic cancer in a cohort of female carriers of BRCA1 and BRCA2 mutation. We also estimated survival rates in pancreatic cancer cases from families with a BRCA mutation. METHODS: We followed 5149 women with a mutation for new cases of pancreatic cancer. The standardised incidence ratios (SIR) for pancreatic cancer were calculated based on age group and country of residence. We also reviewed the pedigrees of 8140 pedigrees with a BRCA1 or a BRCA2 mutation for those with a case of pancreatic cancer. We recorded the year of diagnosis and the year of death for 351 identified cases. RESULTS: Eight incident pancreatic cancer cases were identified among all mutation carriers. The SIR for BRCA1 carriers was 2.55 (95% CI=1.03-5.31, P=0.04) and for BRCA2 carriers was 2.13 (95% CI=0.36-7.03, P=0.3). The 5-year survival rate was 5% for cases from a BRCA1 family and 4% for cases from a BRCA2 family. CONCLUSION: The risk of pancreatic cancer is approximately doubled in female BRCA carriers. The poor survival in familial pancreatic cancer underscores the need for novel anti-tumoural strategies.

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Some families affected by BRCA2 mutations have an increased incidence of pancreatic ductal adenocarcinoma and breast or ovarian cancer, and are classified as having both HBOC and hereditary pancreatic cancer.
“Some families affected by BRCA2 mutations have an increased incidence of pancreatic ductal adenocarcinoma and breast or ovarian cancer. These families are classified as having both HBOC and hereditary pancreatic cancer.33”
From Early detection of pancreatic cancer (2020) · cites this paper as [33]

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Authors: T. H. B. C. S. G., Iqbal, J., Ragone, A., Lubinski, J., Lynch, H. T., Moller, P., Ghadirian, P., Foulkes, W. D., Armel, S., Eisen, A., Neuhausen, S. L., Senter, L., Singer, C. F., Ainsworth, P., Kim-Sing, C., Tung, N., Friedman, E., Llacuachaqui, M., Ping, S., & Narod, S. A.
Affiliations: Women’s College Hospital Research and Innovation Institute (CA)
International Hereditary Cancer Center (PL)
Creighton University (US)
McGill University (CA)
University of Toronto (CA)
Sunnybrook Health Science Centre (CA)
City Of Hope National Medical Center (US)
The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (US)
Comprehensive Cancer Center Vienna (AT)
BC Cancer Agency (CA)
Beth Israel Deaconess Medical Center (US)
Tel Aviv University (IL)
Corresponding author: Narod, S A
ORCID: Iqbal, J
Foulkes, W D
Armel, S
Eisen, A
Neuhausen, S L
Senter, L
Singer, C F
Ainsworth, P
Tung, N
Friedman, E
Narod, S A
Venue: British Journal of Cancer
Publisher: Springer Science and Business Media LLC
Published: 2012-10-25
Volume: 107
Issue: 12
Pages: 2005-2009
ISSN: 0007-0920 (ISSN-L)
1532-1827
DOI: 10.1038/bjc.2012.483
PMC: PMC3516682
OpenAlex: W2035801850
Cited by: 252
References: 19
Citations by year: 2026: 6 · 2025: 14 · 2024: 6 · 2023: 17 · 2022: 23 · 2021: 20 · 2020: 26 · 2019: 18 · 2018: 19 · 2017: 28 · 2016: 24 · 2015: 20 · 2014: 22 · 2013: 9
FWCI: 9.80
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc-sa
www.springer.com/tdm (unspecified)
Locations: British Journal of Cancer (publishedVersion, cc-by-nc-sa)
Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-sa)
PubMed Central (publishedVersion, cc-by-nc-sa)
PubMed (publishedVersion)
Funders: Canadian Cancer Society Research Institute
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: pancreatic cancer, BRCA1 mutation carriers, BRCA2 mutation carriers, hereditary cancer predisposition, cancer incidence, standardized incidence ratio, survival rate, familial pancreatic cancer
MeSH terms: Adult, Aged, Female, Heterozygote, Humans, Middle Aged, Pancreatic Neoplasms, Cohort Studies, Incidence, Germ-Line Mutation, BRCA1 Protein, Genes, BRCA1, Genes, BRCA2, BRCA2 Protein, Kaplan-Meier Estimate

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The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers

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