The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history
Open accessAbstract
PurposePanel-based genetic testing has identified increasing numbers of patients with pancreatic ductal adenocarcinoma (PDAC) who carry germ-line mutations. However, small sample sizes or number of genes evaluated limit prevalence estimates of these mutations. We estimated prevalence of mutations in PDAC patients with positive family history.MethodsWe sequenced 25 cancer susceptibility genes in lymphocyte DNA from 302 PDAC patients in the Mayo Clinic Biospecimen Resource for Pancreatic Research Registry. Kindreds containing at least two first-degree relatives with PDAC met criteria for familial pancreatic cancer (FPC), while the remaining were familial, but not FPC.ResultsThirty-six patients (12%) carried at least one deleterious mutation in one of 11 genes. Of FPC patients, 25/185 (14%) were carriers, while 11/117 (9%) non-FPC patients with family history were carriers. Deleterious mutations (n) identified in PDAC patients were BRCA2 (11), ATM (8), CDKN2A (4), CHEK2 (4), MUTYH/MYH (3 heterozygotes, not biallelic), BRCA1 (2), and 1 each in BARD1, MSH2, NBN, PALB2, and PMS2. Novel mutations were found in ATM, BARD1, and PMS2.ConclusionMultiple susceptibility gene testing in PDAC patients with family history of pancreatic cancer is warranted regardless of FPC status and will inform genetic risk counseling for families.
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“Deleterious variants in the known pancreatic cancer susceptibility genes account for ~10–20% of the familial clustering of pancreatic cancer.”
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Rahib, L., Smith, B. D., Aizenberg, R., Rosenzweig, A. B., Fleshman, J. M., & Matrisian, L. M. (2014) · Cancer Research · doi:10.1158/0008-5472.can-14-0155 · Cited by 7,094
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015) · American Journal of Gastroenterology · doi:10.1038/ajg.2014.435 · Cited by 1,662
Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
Tassan, N. A. A., Chmiel, N. H., Maynard, J. H., Fleming, N. I., Livingston, A. L., Williams, G. T., Hodges, A., Davies, D. R., David, S. S., Sampson, J. R., et al. (2002) · Nature Genetics · doi:10.1038/ng828 · Cited by 1,408
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 13×
“Twenty-seven individuals were found to carry a PV in a gene associated with increased risk of breast cancer (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, NBN).”
InfluentialLocalization of an ataxia-telangiectasia gene to chromosome 11q22–23
Gatti, R. A., Berkel, İ., Boder, E., Braedt, G., Charmley, P., CONCANNON, P. J., Ersoy, F., Foroud, T., Jaspers, N. G. J., Lange, K. L., et al. (1988) · Nature · doi:10.1038/336577a0 · Cited by 684
Genetic/Familial High-Risk Assessment: Breast and Ovarian
Daly, M. B., Axilbund, J. E., Buys, S. S., Crawford, B., Farrell, C. D., Friedman, S., Garber, J. E., Goorha, S., Gruber, S. B., Hampel, H., et al. (2010) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2010.0043 · Cited by 646
Tung, N., Lin, N., Kidd, J., Allen, B. A., Singh, N., WENSTRUP, R. J., Hartman, A., Winer, E. P., & Garber, J. E. (2016) · Journal of Clinical Oncology · doi:10.1200/jco.2015.65.0747 · Cited by 580
Self-citationCHEK2 Is a Multiorgan Cancer Susceptibility Gene
Cybulski, C., Górski, B., Huzarski, T., Masojć, B., Mierzejewski, M., Dębniak, T., Teodorczyk, U., Byrski, T., Gronwald, J., Matyjasik, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/426403 · Cited by 560
Risk of Pancreatic Cancer in Families With Lynch Syndrome
Kastrinos, F. (2009) · JAMA · doi:10.1001/jama.2009.1529 · Cited by 544
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Goggins, M., Overbeek, K. A., Brand, R., Syngal, S., Del Chiaro, M., Bartsch, D. K., Bassi, C., Carrato, A., Farrell, J., Fishman, E. K., et al. (2020) · Gut · doi:10.1136/gutjnl-2019-319352 · Cited by 659
Hu, C., Hart, S. N., Polley, E. C., Gnanaolivu, R., Shimelis, H., Lee, K. Y., Lilyquist, J., Na, J., Moore, R., Antwi, S. O., et al. (2018) · JAMA · doi:10.1001/jama.2018.6228 · Cited by 577
Self-citationPancreatic cancer: A review of epidemiology, trend, and risk factors
Hu, J.-X., Zhao, C., Chen, W.-B., Liu, Q., Li, Q.-W., Lin, Y., & Gao, F. (2021) · World Journal of Gastroenterology · doi:10.3748/wjg.v27.i27.4298 · Cited by 643
Daly, M. B., Pilarski, R., Yurgelun, M. B. B., Berry, M. P., Buys, S. S., Dickson, P., Domchek, S. M., Elkhanany, A. M., Friedman, S., Garber, J. E., et al. (2020) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2020.0017 · Cited by 517
Metadata
- Authors
- Chaffee, K. G., Oberg, A. L., McWilliams, R. R., Majithia, N., Allen, B. A., Kidd, J., Singh, N., Hartman, A.-R., Wenstrup, R. J., & Petersen, G. M.
- Affiliations
- Mayo Clinic (US)
- Myriad Genetics (US)
- Corresponding author
- Petersen, Gloria M.
- ORCID
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2018-01
- Volume
- 20
- Issue
- 1
- Pages
- 119-127
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC5760284
- OpenAlex
- W2738571634
- Cited by
- 144
- References
- 38
- Citations by year
- 2026: 5 · 2025: 13 · 2024: 15 · 2023: 23 · 2022: 19 · 2021: 34 · 2020: 14 · 2019: 10 · 2018: 9
- FWCI
- 6.35
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (CA102701)
- National Cancer Institute (CA102701, R01CA-97075, P50CA102701, R01CA097075)
- 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 ductal adenocarcinoma, germline mutations, cancer susceptibility genes, familial pancreatic cancer, family history (medicine), mutation prevalence, BRCA2, ATM, CDKN2A, CHEK2, MUTYH, BARD1, PMS2, novel mutations
- MeSH terms
- Adult, Aged, Aged, 80 and over, Alleles, Carcinoma, Female, Genetic Testing, Genotype, Humans, Male, Middle Aged, Pancreatic Neoplasms, Registries, United States, Prevalence, Germ-Line Mutation, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing
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