PALB2
MLH1
外显率
支票2
癌症
基因检测
林奇综合征
MSH2
医学
乳腺癌
遗传咨询
结直肠癌
卵巢癌
遗传学
家族史
肿瘤科
MSH6型
内科学
基因
种系突变
突变
生物
DNA错配修复
表型
作者
Lisa R. Susswein,Megan L. Marshall,Rachel Nusbaum,Kristen J. Vogel Postula,Scott M. Weissman,Lauren Yackowski,Erica Vaccari,Jeffrey Bissonnette,Jessica K. Booker,Mattia Cremona,Federica Gibellini,Patricia D. Murphy,Daniel Pineda‐Alvarez,Guido D. Pollevick,Zhixiong Xu,Gabi Richard,Sherri J. Bale,Rachel T. Klein,Kathleen S. Hruska,Wendy K. Chung
摘要
The high frequency of positive results in a wide range of cancer genes, including those of high penetrance and with clinical care guidelines, underscores both the genetic heterogeneity of hereditary cancer and the usefulness of multigene panels over genetic tests of one or two genes.Genet Med 18 8, 823-832.
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