Identification of high-risk germline variants for the development of pancreatic cancer: Common characteristics and potential guidance to screening guidelines

被引：11

作者：

Bennett, Cade ^{[1
]}

Suguitan, Mike ^{[1
]}

Abad, John ^{[1
]}

Chawla, Akhil ^{[1
,2
,3
]}

机构：

[1] Northwestern Univ, Feinberg Sch Med, Dept Surg, Northwestern Med Reg Med Grp,Div Surg Oncol, Chicago, IL USA

[2] Robert H Lurie Comprehens Canc Ctr, Chicago, IL USA

[3] Div Surg Oncol, Dept Surg, Northwestern Med Reg Med Grp, 4405 Weaver Pkwy, Warren, IL 60555 USA

来源：

PANCREATOLOGY | 2022年 / 22卷 / 06期

关键词：

PEUTZ-JEGHERS SYNDROME; CFTR GENE-MUTATIONS; HEREDITARY PANCREATITIS; PREDISPOSITION GENES; RELATIVE FREQUENCY; BRCA2; MUTATIONS; FANCONI-ANEMIA; SPINK1; GENE; PREVALENCE; FAMILIES;

D O I：

10.1016/j.pan.2022.05.005

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Pancreatic cancer (PC) is a product of a variety of environmental and genetic factors. Recent work has highlighted the influence of hereditary syndromes on pancreatic cancer incidence. The purpose of this review is to identify the high-risk syndromes, common variants, and risks associated with PC. The study also elucidates common characteristics of patients with these mutations, which is used to recommend potential changes to current screening protocols for greater screening efficacy. We analyzed 8 syndromes and their respective variants: Hereditary Breast and Ovarian Cancer (BRCA1/2), Familial Atypical Multiple Mole Melanoma Syndrome (CDKN2A), Peutz-Jeghers Syndrome (STK11), Lynch Syndrome (PMS2, MLH1, MSH2, MSH6, EPCAM), Ataxia Telangiectasia (ATM), Li-Fraumeni Syndrome (TP53), Fanconi Anemia (PALB2), and Hereditary Pancreatitis (PRSS1, SPINK1, CFTR). Of 587 studies evaluated, 79 studies fit into our inclusion criteria. Information from each study was analyzed to draw conclusions on these variants as well as their association with pancreatic cancer. Information from this review is intended to improve precision medicine and improve criteria for screening. (C) 2022 IAP and EPC. Published by Elsevier B.V. All rights reserved.

引用

页码：719 / 729

页数：11

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