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Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.

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第一作者： Lars V B,Andersen

第一单位： Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.;Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

作者： Lars V B,Andersen ^[1] ; Martin J,Larsen ^[1] ; Helen,Davies ^[2] ; Andrea,Degasperi ^[2] ; Henriette Roed,Nielsen ^[3] ; Louise A,Jensen ^[1] ; Lone,Kroeldrup ^[4] ; Anne-Marie,Gerdes ^[5] ; Anne-Vibeke,Lænkholm ^[6] ; Torben A,Kruse ^[1] ; Serena,Nik-Zainal ^[7] ; Mads,Thomassen ^[8]

作者单位： Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.;Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark. ^[1] Hutchison Research Centre, Early Cancer Institute, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0XZ, UK.;Academic Laboratory of Medical Genetics, Lv 6 Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK. ^[2] European Sperm Bank, Copenhagen, Denmark. ^[3] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. ^[4] Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. ^[5] Department of Surgical Pathology, Zealand University Hospital, 4000, Roskilde, Denmark. ^[6] Hutchison Research Centre, Early Cancer Institute, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0XZ, UK.;Academic Laboratory of Medical Genetics, Lv 6 Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK.;European Sperm Bank, Copenhagen, Denmark. ^[7] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. mads.thomassen@rsyd.dk.;Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark. mads.thomassen@rsyd.dk. ^[8]

关键词 BRCAness Breast cancer HRDetect Hereditary breast cancer Mutational signatures Non-BRCA1/BRCA2 Whole genome sequencing

医学主题词人类(Humans);女(雌)性(Female);基因, BRCA2(Genes, BRCA2);乳腺肿瘤(Breast Neoplasms);患病率(Prevalence);突变(Mutation);BRCA2蛋白质(BRCA2 Protein)

DOI 10.1186/s13058-023-01655-y

PMID 37316882

发布时间 2023-06-21

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