Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.,Genetics in Medicine

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Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-Jul-10 , DOI: 10.1038/s41436-018-0005-9
Laurent Castéra _{1,

2} , Valentin Harter _{1,

3} , Etienne Muller _{1,

2} , Sophie Krieger _{1,

2,

4} , Nicolas Goardon ₁ , Agathe Ricou ₁ , Antoine Rousselin ₁ , Germain Paimparay ₁ , Angelina Legros ₁ , Olivia Bruet ₁ , Céline Quesnelle ₁ , Florian Domin ₁ , Chankannira San ₁ , Baptiste Brault ₁ , Robin Fouillet ₁ , Caroline Abadie ₅ , Odile Béra ₆ , Pascaline Berthet ₇ , , Thierry Frébourg _{2,

8} , Dominique Vaur _{1,

2}

Affiliation

Integration of gene panels in the diagnosis of hereditary breast and ovarian cancer (HBOC) requires a careful evaluation of the risk associated with pathogenic or likely pathogenic variants (PVs) detected in each gene. Here we analyzed 34 genes in 5131 suspected HBOC index cases by next-generation sequencing.

中文翻译：

来自 5131 个 HBOC 家族的 34 个基因和癌症风险评估中的致病变异景观。

在遗传性乳腺癌和卵巢癌 (HBOC) 诊断中整合基因组需要仔细评估与在每个基因中检测到的致病性或可能致病性变异 (PV) 相关的风险。在这里，我们通过下一代测序分析了 5131 例疑似 HBOC 指示病例中的 34 个基因。

更新日期：2018-07-10

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