大约5-10%所有卵巢癌案例呈家族聚集，其中15-25%的家族性卵巢癌案例由BRCA1和BRCA2基因的高渗透突变介导。少数其他基因已被确定与家族性卵巢癌相关。我们对巴什科尔托斯坦共和国的48名家族性卵巢癌患者的基因组DNA样本进行了21个候选基因的蛋白质编码区域的定向下一代测序，包括UTR区域。我们在总共16名患者（33%）中发现了BRCA1、BRCA2、CHEK2、MSH6和NBN的有害变异。之前未报道过NBN截短变异体p.W143X。其中7名患者（15%）是BRCA1的c.5266dupC变异体的携带者，支持俄罗斯来源的这个创始人等位基因。另外还观察到15个临床意义不确定的变异体。我们得出结论，我们的基因面板解释了巴什科尔托斯坦共和国约三分之一的家族性卵巢癌风险。©2023作者。

About 5-10% of all ovarian cancer cases show familial clustering, and some 15-25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have been identified for familial ovarian cancer.We conducted targeted next-generation sequencing of the protein coding region of 21 candidate genes, including UTR regions, in genomic DNA samples of 48 patients with familial ovarian cancer from the Republic of Bashkortostan. We identified deleterious variants in BRCA1, BRCA2, CHEK2, MSH6 and NBN in a total of 16 patients (33%). The NBN truncating variant, p.W143X, had not previously been reported. Seven patients (15%) were carriers of the c.5266dupC variant in BRCA1, supporting a Russian origin of this founder allele. An additional 15 variants of uncertain clinical significance were observed. We conclude that our gene panel explains about one-third of familial ovarian cancer risk in the Republic of Bashkortostan.© 2023. The Author(s).