Causes for Frequent Pathogenic <i>BRCA1</i> Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift.

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作者： Pål,Møller ^[1] ; Mev,Dominguez-Valentin ^[2] ; Einar Andreas,Rødland ^[3] ; Eivind,Hovig ^[4]

作者单位： Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Part of Oslo University Hospital, Oslo 0424, Norway. moller.pal@gmail.com. ^[1] Center for Hereditary Tumors, HELIOS-Klinikum Wuppertal, University of Witten-Herdecke, Wuppertal 42283, Germany. moller.pal@gmail.com. ^[2] Department of Medical Genetics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo 0424, Norway. moller.pal@gmail.com. ^[3] Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Part of Oslo University Hospital, Oslo 0424, Norway. Mev.Dominguez.Valentin@rr-research.no. ^[4] Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Part of Oslo University Hospital, Oslo 0424, Norway. einarro@ulrik.uio.no. ^[5] Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Part of Oslo University Hospital, Oslo 0424, Norway. ehovig@ifi.uio.no. ^[6] Center for Bioinformatics, Department of Informatics, University of Oslo, PO box 1080, Blindern 0316 OSLO, Norway. ehovig@ifi.uio.no. ^[7]

关键词 fitness founder variants genetic drift genetic epidemiology hot-spots germline mutations.pathogenic BRCA1 variants

DOI 10.3390/cancers11020132

PMID 30678073

发布时间 2020-09-30

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