Cited by 159Pancreatic and Hepatic Oncology ResearchBRCA gene mutations in cancerGenetic factors in colorectal cancer

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Familial pancreatic cancer

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Petersen, Gloria M.·2016·Seminars in Oncology

DOI 10.1053/j.seminoncol.2016.09.002PMC PMC5234085

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Abstract

Familial pancreatic cancer (FPC) includes those kindreds that contain at least two first-degree relatives with pancreatic ductal adenocarcinoma. At least 12 known hereditary syndromes or genes are associated with increased risk of developing pancreatic cancer, the foremost being BRCA2 and CDKN2A. Research into the identification of mutations in known cancer predisposition genes and through next-generation sequencing has revealed extensive heterogeneity. The development of genetic panel testing has enabled genetic risk assessment and predisposition testing to be routinely offered. Precision oncology has opened the possibility of "incidental" germline mutations that may have implications for family members. However, in both cases, evidence-based recommendations for managing patients and at-risk family members in light of genetic status remain emergent, with current practice based on expert opinion.

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Authors: Petersen, G. M.
Affiliations: Mayo Clinic (US)
Corresponding author: Petersen, Gloria M.
ORCID: Petersen, Gloria M.
Venue: Seminars in Oncology
Publisher: Elsevier BV
Published: 2016-10
Volume: 43
Issue: 5
Pages: 548-553
ISSN: 0093-7754 (ISSN-L)
DOI: 10.1053/j.seminoncol.2016.09.002
PMC: PMC5234085
OpenAlex: W2522369252
Cited by: 157
References: 69
Citations by year: 2026: 10 · 2025: 16 · 2024: 21 · 2023: 16 · 2022: 19 · 2021: 21 · 2020: 22 · 2019: 15 · 2018: 12 · 2017: 5
FWCI: 1.07
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Seminars in Oncology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Cancer Institute (P50CA102701, R01CA097075)
Topics: Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: familial pancreatic cancer, pancreatic ductal adenocarcinoma, hereditary cancer, BRCA2, CDKN2A, germline mutations, genetic panel testing, precision oncology, genetic risk prediction
MeSH terms: Fanconi Anemia Complementation Group N Protein, Humans, Nuclear Proteins, Pancreatic Neoplasms, Cyclin-Dependent Kinase Inhibitor p16, Genetic Predisposition to Disease, Genes, BRCA2, Tumor Suppressor Proteins, Cyclin-Dependent Kinase Inhibitor p18, Fanconi Anemia Complementation Group C Protein

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