Fanconi贫血基因在乳腺癌遗传易感性中的研究进展  

Progress in studies on Fanconi anemia genes in genetic susceptibility of breast cancer

作　　者：曹文明[1] 王晓稼[1] 

机构地区：[1]浙江省肿瘤医院乳腺肿瘤内科,杭州310022

出　　处：《国际遗传学杂志》2017年第6期368-376,共9页International Journal of Genetics

基　　金：国家自然科学基金（81672597）;浙江省自然科学基金（LY17H160038）;浙江省医药卫生科研基金（2014KYA006、2017RC014）

摘　　要：Fanconi贫血（Fanconi anemia,FA）是一种常染色体隐性遗传性疾病,目前已证实的FA基因有20个.已有研究显示,一些FA基因单等位基因突变会增加乳腺癌发生风险,是乳腺癌的高、中外显遗传易感基因,在遗传性乳腺癌指南中推荐筛查的相关基因有FANCD 1/BRCA 1、FANCS/BRCA 2和FANCN/PALB 2.为证实其他FA基因与乳腺癌遗传的相关性,国际上已有大量的研究报道,发现有多个FA基因可能是乳腺癌的中外显易感基因,但各研究结果不相一致.本文对其他10余个FA基因在乳腺癌遗传易感中的研究进展进行综述,为全面认识FA基因功能及为乳腺癌遗传筛查和后续研究提供依据.Fanconi anemia （ FA ） is an autosomal recessive genetic disorder , in which 20 FA genes were identified . It is known that monoallelic mutations in three FA genes （ FANCD 1/BRCA 1 , FANCS /BRCA 2 and FANCN/PALB 2 ） can increase the risk of breast cancer .These FA genes are high-moderate penetrance susceptibility genes related to breast cancer , and are recommended to be screened for breast cancer genetic counseling by guideline .The association between the remaining FA genes and breast cancer genetic susceptibility has been widely studied .Some studies found that several FA genes might act as breast cancer susceptibility genes , but the results are not consistent .This article reviews the related lit-eratures in order to provide a comprehensive understanding of the correlation between FA genes and breast cancer genetic susceptibility , and of the basis for genetic screening and potential future studies in breast cancer genetic susceptibility .

关 键 词：FANCONI贫血 遗传性乳腺癌 基因 突变 遗传易感性 

分 类 号：R737.9[医药卫生—肿瘤]