中国汉族人群中BRCA1和BRCA2基因突变携带者患乳腺癌风险的研究

被引：27

作者：

杨晓晨 ^{[1
,2
]}

胡震 ^{[1
]}

吴炅 ^{[1
]}

柳光宇 ^{[1
]}

沈镇宙 ^{[1
]}

邵志敏 ^{[1
]}

机构：

[1] 复旦大学附属肿瘤医院乳腺外科,复旦大学上海医学院肿瘤学系

[2] 江苏大学附属昆山第一人民医院甲乳外科

来源：

中国癌症杂志 | 2015年 / 25卷 / 04期

关键词：

BRCA1; BRCA2; 乳腺癌; 外显率;

D O I：

暂无

中图分类号：

R737.9 [乳腺肿瘤];

学科分类号：

100214 [肿瘤学];

摘要：

背景与目的:BRCA1和BRCA2基因突变携带者终生患乳腺癌和卵巢癌的风险显著增高。通过遗传咨询,突变携带者可采取适当的措施来降低相应肿瘤的发生风险。目前,相关的报道几乎均为白种人,尚缺乏中国人群的资料。该研究旨在探索中国汉族人群中BRCA1和BRCA2基因突变携带者患乳腺癌的风险。方法:回顾20个经基因检测证实携带BRCA1或BRCA2致病性基因突变的汉族乳腺癌高风险家系。利用Kaplan-Meier生存分析法对女性BRCA1/2基因突变携带者单侧乳腺癌及对侧乳腺癌的累积发病风险进行估算。结果:BRCA1和BRCA2基因突变携带者70岁时单侧乳腺癌的累积发病风险(外显率)分别为67.2%(sx 0.100)和76.8%(sx 0.079)。与BRCA1不同的是,BRCA2基因突变携带者70岁后乳腺癌累积发病率继续增加,到80岁时达93.1%。BRCA1/2基因突变携带者对侧乳腺癌10年和20年的累积发病率分别为19.4%(sx 0.089)和50.3%(sx 0.155)。结论:中国汉族人群中BRCA1和BRCA2基因突变携带者具有很高的乳腺癌发病风险。因而对中国高风险人群进行BRCA1/2基因突变检测具有重要临床意义。

引用

页码：247 / 252

页数：6

共 5 条

[1]

Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age [J].

van der Kolk, Dorina M. ;

de Bock, Geertruida H. ;

Leegte, Beike K. ;

Schaapveld, Michael ;

Mourits, Marian J. E. ;

de Vries, Jakob ;

van der Hout, Annemieke H. ;

Oosterwijk, Jan C. .

BREAST CANCER RESEARCH AND TREATMENT, 2010, 124 (03) :643-651

[2]

The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality:: two recurrent mutations were identified [J].

Li, Wen-Feng ;

Hu, Zhen ;

Rao, Nan-Yan ;

Song, Chuang-Gui ;

Zhang, Bin ;

Cao, Ming-Zhi ;

Su, Feng-Xi ;

Wang, Yong-Sheng ;

He, Ping-Qing ;

Di, Gen-Hong ;

Shen, Kun-Wei ;

Wu, Jiong ;

Lu, Jin-Song ;

Luo, Jian-Min ;

Liu, Xiao-Yi ;

Zhou, Jie ;

Wang, Lei ;

Zhao, Lin ;

Liu, Yan-Bing ;

Yuan, Wen-Tao ;

Yang, Lin ;

Shen, Zhen-Zhou ;

Huang, Wei ;

Shao, Zhi-Ming .

BREAST CANCER RESEARCH AND TREATMENT, 2008, 110 (01) :99-109

[3]

Incidence and risk factors associated with bilateral breast cancer in area with early age diagnosis but low incidence of primary breast cancer: analysis of 10-year longitudinal cohort in Taiwan [J].

Kuo, Wen-Hung ;

Yen, Amy Ming-Fang ;

Lee, Po-Huang ;

Hou, Ming-Feng ;

Chen, Shin-Cheh ;

Chen, Kai-Mo ;

Chen, Tony Hsiu-Hsi ;

Chang, King-Jen .

BREAST CANCER RESEARCH AND TREATMENT, 2006, 99 (02) :221-228

[4]

Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status [J].

Haffty, BG ;

Harrold, E ;

Khan, AJ ;

Pathare, P ;

Smith, TE ;

Turner, BC ;

Glazer, PM ;

Ward, B ;

Carter, D ;

Matloff, E ;

Bale, AE ;

Alvarez-Franco, M .

LANCET, 2002, 359 (9316) :1471-1477

[5]

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families [J].

Ford, D ;

Easton, DF ;

Stratton, M ;

Narod, S ;

Goldgar, D ;

Devilee, P ;

Bishop, DT ;

Weber, B ;

Lenoir, G ;

Chang-Claude, J ;

Sobol, H ;

Teare, MD ;

Struewing, J ;

Arason, A ;

Scherneck, S ;

Peto, J ;

Rebbeck, TR ;

Tonin, P ;

Neuhausen, S ;

Barkardottir, R ;

Eyfjord, J ;

Lynch, H ;

Ponder, BAJ ;

Gayther, SA ;

Birch, JM ;

Lindblom, A ;

Stoppa-Lyonnet, D ;

Bignon, Y ;

Borg, A ;

Hamann, U ;

Haites, N ;

Scott, RJ ;

Maugard, CM ;

Vasen, H .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :676-689

← 1 →