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首页> 外文期刊>Nature Communications >Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

机译：家族性高级浆液卵巢癌的外壳测序显示出罕见候选易感基因的异质性

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High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, approximately half of which cannot be explained by known genes. To discover genes, we analyse germline exome sequencing data from 516 BRCA1/2-negative women with HGSOC, focusing on genes enriched with rare, protein-coding loss-of-function (LoF) variants. Overall, there is a significant enrichment of rare protein-coding LoF variants in the cases (p??0.0001, chi-squared test). Only thirty-four (6.6%) have a pathogenic variant in a known or proposed predisposition gene. Few genes have LoF mutations in more than four individuals and the majority are detected in one individual only. Forty-three highly-ranked genes are identified with three or more LoF variants that are enriched by three-fold or more compared to GnomAD. These genes represent diverse functional pathways with relatively few involved in DNA repair, suggesting that much of the remaining heritability is explained by previously under-explored genes and pathways.
机译：高级浆液卵巢癌（HGSOC）具有重要的遗传性成分，其中大约一半不能通过已知的基因解释。为了发现基因，我们分析来自516年BRCA1 / 2阴性妇女的种系exome测序数据，HGSOC专注于富含罕见的蛋白质编码损失（LOF）变体的基因。总体而言，在病例中存在显着富集罕见的蛋白质编码LOF变体（P？<β0101，CHI平方测试）。在已知的或提出的倾向基因中只有34（6.6％）具有致病变异。很少有基因在超过4个体中具有偏移突变，并且大部分仅在一个人中检测到。与GNOMAD相比，用三个或更多个LOF变体鉴定有三十三个高度的基因，其富集3倍或更高。这些基因代表了不同少数涉及DNA修复的功能途径，表明以前探索的基因和途径解释了大部分剩余遗传性。

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