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家族性胰腺癌综合征

Familial pancreatic cancer syndromes.

作者信息

Habbe Nils, Langer Peter, Sina-Frey Mercedes, Bartsch Detlef K

机构信息

Department of Surgery, Philipps-University Marburg, Baldiger Strasse, Marburg 35033, Germany.

出版信息

Endocrinol Metab Clin North Am. 2006 Jun;35(2):417-30, xi. doi: 10.1016/j.ecl.2006.02.016.

Abstract

Hereditary pancreatic cancer (PC) is rare and extremely heterogeneous, and it accounts for approximately 2% of all PC cases. The major component of hereditary PC is the familial pancreatic cancer syndrome. Although up to 20% of hereditary PC cases are associated with germline mutations in the BRCA2, CDKN2A, PRSS1,STKI1, or MMR genes, the major underlying gene defect(s) is still unknown. Although hereditary PC is rare, the data on PC families that have been collected by various study groups worldwide provide a unique opportunity to evaluate the natural history, causative gene alterations, new diagnosis and chemoprevention strategies as well as treatment modalities.

摘要

遗传性胰腺癌(PC)较为罕见且具有高度异质性,约占所有胰腺癌病例的2%。遗传性PC的主要组成部分是家族性胰腺癌综合征。尽管高达20%的遗传性PC病例与BRCA2、CDKN2A、PRSS1、STKI1或MMR基因的种系突变有关,但其主要潜在基因缺陷仍不明。尽管遗传性PC罕见,但全球各研究小组收集的PC家族数据为评估其自然史、致病基因改变、新的诊断和化学预防策略以及治疗方式提供了独特机会。

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