期刊
SEMINARS IN ONCOLOGY
卷 43, 期 5, 页码 548-553出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.seminoncol.2016.09.002
关键词
Pancreatic cancer; Genetic testing; BRCA2; CDKN2A
类别
资金
- NCI grants [R01CA97075, P50CA102701]
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. (C) 2016 Elsevier Inc. All rights reserved.
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