The DOI matches its Crossref record; 18 of the 19 references it cites were found in a registry or an index.
The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers
Open accessAbstract
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. 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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DPC4 , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1
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“These include BRCA1 and BRCA2 (Lal et al, 2000), TP53 (Caldas et al, 1994), PALB2 (Jones et al, 2009), p16/CDKN2A (Redston et al, 1994; Ghiorzo et al, 2012), SMAD4 (Hahn et al, 1996), STK 11 (Sato et al, 2001), ataxia-telangiectasia-mutated (ATM) gene (Roberts et al, 2011) and the mismatch repair genes (MMR) (Win et a…”
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Self-citationATM Mutations in Patients with Hereditary Pancreatic Cancer
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“…(Lal et al, 2000), TP53 (Caldas et al, 1994), PALB2 (Jones et al, 2009), p16/CDKN2A (Redston et al, 1994; Ghiorzo et al, 2012), SMAD4 (Hahn et al, 1996), STK 11 (Sato et al, 2001), ataxia-telangiectasia-mutated (ATM) gene (Roberts et al, 2011) and the mismatch repair genes (MMR) (Win et al, 2012).”
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Ryan, D. P., Hong, T. S., & Bardeesy, N. (2014) · New England Journal of Medicine · doi:10.1056/nejmra1404198 · Cited by 2,348
Kleeff, J., Korc, M., Apte, M., La Vecchia, C., Johnson, C. D., Biankin, A. V., Neale, R. E., Tempero, M., Tuveson, D. A., Hruban, R. H., et al. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.22 · Cited by 1,982
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Pancreatic Adenocarcinoma, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology
Tempero, M. A., Malafa, M. P., Al-Hawary, M. M., Behrman, S. W., Benson, A. B., Cardin, D. B., Chiorean, E. G., Chung, V. M., Czito, B. G., Chiaro, M. D., et al. (2021) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2021.0017 · Cited by 1,356
PARP Inhibitors: Clinical Relevance, Mechanisms of Action and Tumor Resistance
Rose, M., Burgess, J. T., O'Byrne, K. J., Richard, D. J., & Bolderson, E. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.564601 · Cited by 775
Metadata
- 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
- Venue
- British Journal of Cancer
- Published
- 2012-10-25
- Volume
- 107
- Issue
- 12
- Pages
- 2005-2009
- ISSN
- 0007-0920 (ISSN-L)
- 1532-1827
- 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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