The BRCA1/2 gene is important for assessing the risk of familial/hereditary ovarian cancer (OC). This case is a patient with OC, and two of her immediate family members are cancer patients. We sequenced the coding and splicing regions of 42 OC susceptibility genes, and found a rare pathogenic splicing mutation BRCA1:c.132C > T (p.cys44 =) in 2 patients. Although the mutation is synonymous, software prediction and functional verification have shown that it affects alternative splicing and leads to frameshift mutations (c.131_134del). Chromosome microarray analysis of the tissue samples revealed the presence of a BRCA1 gene deletion with a fragment size of 1.42 Mb and an HRD score of 71. In addition, the proband showed a sensitive response to platinum treatment. This case suggests the clinical significance of OC susceptibility genes sequencing and HRD scoring in screening hereditary OC families.

BRCA1/2 基因对于评估家族性/遗传性卵巢癌 (OC) 的风险很重要。这个病例是一个OC患者，她的两个直系亲属都是癌症患者。我们对42个OC易感基因的编码和剪接区进行了测序，发现了一个罕见的致病性剪接突变BRCA1:c.132C >  T(p.cys44 =) 2 名患者。尽管突变是同义词，但软件预测和功能验证表明它会影响选择性剪接并导致移码突变（c.131_134del）。组织样本的染色体微阵列分析显示存在 BRCA1 基因缺失，片段大小为 1.42 Mb，HRD 评分为 71。此外，先证者对铂治疗表现出敏感反应。本病例提示OC易感基因测序和HRD评分在筛查遗传性OC家族中的临床意义。