攀枝花地区散发性乳腺癌BRCA1和BRCA2基因突变的研究

Analysis of BRCA1 and BRCA2 gene mutations of breast cancer patients in panzhihua

目的探讨攀枝花地区散发性乳腺癌BRCA1和BRCA2基因突变率及其类型。方法选择2015年4月-2018年4月在攀枝花市中心医院和攀枝花学院附属医院接受手术且病理确诊为乳腺癌患者78例,抽取外周血,分离白细胞,提取DNA,扩增BRCA1第2,5,11,18,20外显子和BRCA2基因第10,11外显子序列,进行测序,确定突变位点。结果本研究共纳入乳腺癌患者78例,共发现19例患者存在致病突变,突变率24.4%(19/78);患者共30人次发现突变,共发现突变位点10个。其中,BRCA1发现7个突变位点,均各1例患者有这些突变;BRCA2发现3个突变位点,共14例患者有c.2082C>T(rs80358476)位点,占所发现突变的46.7%(14/30),7例患者有c.2046A>T(rs80358471)位点,占所发现突变的23.3%(7/30)。结论攀枝花地区散发性乳腺癌患者携带BRCA基因突变率高,且有一定数量患者携带多个突变,BRCA2基因rs80358476及rs80358471突变可能增加乳腺癌的发病风险,并且对于本地区人群具有一定的特异性,值得今后深入研究验证。

Objective To find out the frequency and distribution of BRCA1 and BRCA2 gene mutations in women diagnosed with breast cancer in Panzhihua. Methods Mutation screening of BRCA1 gene exon2,5,11,18,20 and BRCA2 exon 10 were performed through white blood cell DNA in peripheral blood from 78 breast cancer patients from Panzhihua.Results 19 patients were detected with pathogenic mutations and the mutation ratio is24.4%(19/78).10 mutation sites and 30 person-times mutation were found,among which BRCA1 accounts for 7 and BRCA2 accounts for 3. 14 patients were detected with c.2082 C>T(rs80358476),which is 46.7%(14/30)of all mutations. 7 patients were detected with c.2046 A>T(rs80358471),which is 23.3%(7/30)of all mutations. Conclusion There is a high ratio for Panzhihua sporadic breast cancer patients to carry a mutation in BRCA1 and BRCA2 gene. And some carry several mutations.Rs80358476 and rs80358471 in BRCA2 gene may increase the possibility of breast cancer and worth further research.