中国汉族BRCA1／2突变的乳腺癌家系中其他肿瘤发病风险分析  

作　　者：刘静[1] 张娟[1] 欧阳涛[1] 李金峰[1] 王天峰[1] 范照青[1] 范铁[1] 林本耀[1] 解云涛[1] 

机构地区：[1]北京大学肿瘤医院乳腺中心,100142

出　　处：《国际肿瘤学杂志》2013年第5期389-392,共4页Journal of International Oncology

基　　金：国家自然科学基金（81071629）

摘　　要：目的研究携带BRCA1／2突变的中国汉族家族性乳腺癌家系中非乳腺癌和卵巢癌的其他肿瘤发病风险。方法采用聚合酶链反应（PCR）一直接测序法检测465个汉族家族性乳腺癌家系中先证者的BRCA1／2基因胚系突变，比较突变组与非突变组有非乳腺癌和卵巢癌的其他肿瘤家族史的比例。结果在465例汉族家族性乳腺癌先证者中，BRCA1／2突变者47例（10．1％），非突变者418例（89．9％）。在BRCA1／2突变组和非突变组中，两者总的非乳腺癌和卵巢癌的其他肿瘤家族史比例差异无统计学意义（突变组与非突变组，27．7％：29．9％，χ2=0．10，P=0．75）；但两组的瘤谱分布有差别，在突变组的家族中最常见肿瘤为胃癌、胰腺癌和前列腺癌；而在非突变组家族中最常见的为肺癌、胃癌和食管癌。进一步分析发现胃癌、胰腺癌和前列腺癌3种肿瘤家族史总的比例在突变组中显著高于非突变组（突变组与非突变组，17％：7．7％，Fisher精确概率法P=0．048）。突变组家族中发生胃癌、胰腺癌和前列腺癌的风险为非突变组家族的2．47倍（95％CI为1．07～5．74）。结论在中国汉族家族性乳腺癌患者中，相比较于非BRCA1／2突变家系，BRCA1／2突变患者的家系有相对较高的风险发生胃癌、胰腺癌和前列腺癌。Objective To investigate the risk of cancer other than breast or ovarian in Chinese Han women with family breast cancer who carried a BRCA1 or BRCA2 mutation.Methods Germline mutations in BRCA1/2 genes in the cohort of 465 Chinese Han patients with familial breast cancer were screened using a PCR-sequencing assay.The proportion of cancer other than breast or ovarian was compared in mutantion group and non mutation group.Results Among the 465 familial breast cancer patients,47 (10.1％) were BRCA1/2 mutation carriers and 418 (89.9％) were non-carriers.There was no significant difference in the total proportion of cancers other than breast or ovarian in the family between BRCA1/2 mutation carriers and non-carriers (27.7％ ∶29.9％,x2 =0.10,P=0.75).But the tumor spectrum was different between the BRCA1/2 carriers and non-carriers.In the family of BRCA1/2 carriers,the most common cancers were gastric cancer,pancreatic cancer,and prostate cancer; while in the non-carriers,the most common cancers were lung cancer,gastric cancer,and esophageal cancer.The relative risk of gastric cancer,pancreatic cancer and prostate cancer was significantly higher in the families of BRCA1/2 mutation carriers than that of non-carriers (17％∶7.7％,odd ratio:2.47,95％ CI:1.07-5.74,P =O.048).Conclusion This study suggests that the relative risk of gastric cancer,pancreatic cancer and prostate cancer in BRCA1/2 carriers is moderate higher than in non-carriers in Chinese Han women.

关 键 词：汉族 乳腺肿瘤 中国 基因 BRCA1 基因 BRCA2 突变 

分 类 号：R737.9[医药卫生—肿瘤]