支票2
PALB2
先证者
卵巢癌
基因检测
乳腺癌
结直肠癌
种系突变
林奇综合征
肿瘤科
MLH1
遗传咨询
医学
遗传学
DNA错配修复
生物
内科学
癌症
突变
基因
作者
Mar Infante,Mónica Arranz-Ledo,Enrique Lastra,Amaya Olaverri,Raquel Conceição Ferreira,Marta Orozco,Lara Hernández,Noemí Martínez,M. Durán
标识
DOI:10.1016/j.cca.2023.117695
摘要
Multigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.
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