Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.-临床诊疗知识库

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

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作者：

Cornelia, Kraus；Juliane, Hoyer；Georgia, Vasileiou；Marius, Wunderle；Michael P, Lux；Peter A, Fasching；Mandy, Krumbiegel；Steffen, Uebe；Miriam, Reuter；Matthias W, Beckmann；André, Reis

来源：

International journal of cancer 2017 年 140卷 1期

标签：

breast cancer gene panel next generation sequencing non-BRCA1/2 ovarian cancer

Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high- and moderate to low-penetrance susceptibility genes. With the advent of next generation sequencing (NGS) simultaneous testing of these genes has become feasible. In this monocentric study, we report results of panel-based screening of 14 BC/OC susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, TP53, MLH1, MSH2, MSH6 and PMS2) in a group of 581 consecutive individuals from a German population with BC and/or OC fulfilling diagnostic criteria for BRCA1 and BRCA2 testing including 179 with a triple-negative tumor. Altogether we identified 106 deleterious mutations in 105 (18

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