抽象的

BRCA-????????

Sandhya Iyer、Shubham Kavishwar、Aarthi Ramesh、Rambaksh Prajapati、Madhura Basavalingegowda、Seema Todur、Somashekar SP 和 Gowhar Shafi

??? BRCA ??????????????????????????????????????????????? 5-10% ?????? 10-15% ??????? BRCA ?????????????????????????????????????????BRCA1/2 ?????????????????????????????????????????????????????????????

???????NGS????BRCA???????????????????????

????? 51 ?? NGS ????? 49 ???????????? BRCA ???????????????????? Illumina Next Seq ????? BRCA1 ? BRCA2 ????? 51 ?????? 1000 ????????

?????????????BRCA1 ???? 12.2%?? BRCA2 ???? 8.2%??????????????????????

???????????? BRCA1/2 ???????????