家族性胰腺腺癌
Familial Pancreatic Adenocarcinoma.
作者信息
Petersen Gloria M
机构信息
Department of Health Sciences Research, Mayo Clinic Cancer Center, Mayo Clinic, Charlton 6-243, Rochester, MN 55905, USA.
出版信息
Hematol Oncol Clin North Am. 2015 Aug;29(4):641-53. doi: 10.1016/j.hoc.2015.04.007. Epub 2015 Jun 9.
Abstract
Familial pancreatic cancer (FPC) kindreds have at least 2 first-degree relatives with pancreatic ductal adenocarcinoma. Studies of FPC have focused on the discovery of genetic cause and on the management of those at genetically high risk. Research reveals that a half dozen known hereditary syndromes or genes are associated with increased risk of developing pancreatic cancer, the most prominent of which are BRCA2 and CDKN2A. Genetic risk assessment and testing is already available. Owing to limited experience worldwide, guidance is often based on expert opinion, although all agree that research is needed to improve the shaping of options.
摘要
家族性胰腺癌（FPC）家系中至少有2名一级亲属患有胰腺导管腺癌。FPC的研究主要集中在遗传病因的发现以及对遗传高危人群的管理上。研究表明，六种已知的遗传性综合征或基因与患胰腺癌风险增加有关，其中最突出的是BRCA2和CDKN2A。基因风险评估和检测已经可以实现。由于全球范围内的经验有限，指导意见往往基于专家意见，尽管所有人都认为需要开展研究以优化选择方案。
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本文引用的文献
1
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.ACG 临床指南：遗传性胃肠道癌综合征的基因检测与管理。
Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3.
2
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.胰腺癌患者中癌症易感基因种系突变的患病率
Gastroenterology. 2015 Mar;148(3):556-64. doi: 10.1053/j.gastro.2014.11.042. Epub 2014 Dec 2.
3
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.家族性胰腺癌中BRCA1、BRCA2、PALB2和CDKN2A突变：一项PACGENE研究。
Genet Med. 2015 Jul;17(7):569-77. doi: 10.1038/gim.2014.153. Epub 2014 Nov 20.
4
Clinical and pathologic features of familial pancreatic cancer.家族性胰腺癌的临床和病理特征。
Cancer. 2014 Dec 1;120(23):3669-75. doi: 10.1002/cncr.28863. Epub 2014 Oct 14.
5
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Anticancer Drugs. 2015 Feb;26(2):224-6. doi: 10.1097/CAD.0000000000000178.
6
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Cancer Epidemiol Biomarkers Prev. 2013 Oct;22(10):1913-7. doi: 10.1158/1055-9965.EPI-13-0518. Epub 2013 Aug 21.
7
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Br J Cancer. 2012 Dec 4;107(12):2005-9. doi: 10.1038/bjc.2012.483. Epub 2012 Oct 25.
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