CAJ | 학술논문

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)-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％,x2=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.
목적 연구휴대BRCA1/2돌변적중국한족가족성유선암가계중비유선암화란소암적기타종류발병풍험.방법 채용취합매련반응(PCR)-직접측서법검측465개한족가족성유선암가계중선증자적BRCA1/2기인배계돌변,비교돌변조여비돌변조유비유선암화란소암적기타종류가족사적비례.결과 재465례한족가족성유선암선증자중,BRCA1/2돌변자47례(10.1％),비돌변자418례(89.9％).재BRCA1/2돌변조화비돌변조중,량자총적비유선암화란소암적기타종류가족사비례차이무통계학의의(돌변조여비돌변조,27.7％∶29.9％,x2=0.10,P=0.75)；단량조적류보분포유차별,재돌변조적가족중최상견종류위위암、이선암화전렬선암；이재비돌변조가족중최상견적위폐암、위암화식관암.진일보분석발현위암、이선암화전렬선암3충종류가족사총적비례재돌변조중현저고우비돌변조(돌변조여비돌변조,17％∶7.7％,Fisher정학개솔법P=0.048).돌변조가족중발생위암、이선암화전렬선암적풍험위비돌변조가족적2.47배(95％ CI위1.07 ～ 5.74).결론 재중국한족가족성유선암환자중,상비교우비BRCA1/2돌변가계,BRCA1/2돌변환자적가계유상대교고적풍험발생위암、이선암화전렬선암.
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.