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Novel POLE Pathogenic Germline Variant in a Family with Multiple Primary Tumors Results in Distinct Mutational Signatures.

Ester Castellsague,Rui Li,Rosa Aligue,Sara Gonzalez,Judit Sanz,Edgar Martin,Angela Velasco,Gabriel Capella,Colin J. R. Stewart,August Vidal,Jacek Majewski,Barbara Rivera,Paz Polak,Xavier Matias-Guiu,Joan Brunet,William D. Foulkes

Human Mutation（2018）

引用 22|浏览57
关键词
colorectal cancer,genetic diagnosis,hereditary cancer,mutational signatures,POLE,PPAP
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