Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients

The prevalence of disease-related BRCA1 mutations was investigated in 642 Dutch breast cancer patients not selected for family history or age at diagnosis. They were tested for germline mutations in the BRCA1 gene using an assay which detects small deletions and insertions (DSDI), as well as the two major genomic founder deletions present in the Dutch population. Data on family history and bilateral breast cancer were obtained retrospectively. Ten protein truncating mutations were detected and one in-frame deletion with an unknown relation to disease risk. Four patients carried the Dutch found... Mehr ...

Verfasser: Papelard, H
de Bock, GH
van Eijk, R
Vlieland, TPMV
Cornelisse, CJ
Devilee, P
Tollenaar, RAEM
Dokumenttyp: Artikel
Erscheinungsdatum: 2000
Reihe/Periodikum: Papelard , H , de Bock , GH , van Eijk , R , Vlieland , TPMV , Cornelisse , CJ , Devilee , P & Tollenaar , RAEM 2000 , ' Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients ' , British Jounal of Cancer , vol. 83 , no. 6 , pp. 719-724 . https://doi.org/10.1054/bjoc.2000.1331
Schlagwörter: BRCA1 prevalence / general breast cancer population / Dutch founder mutations / OVARIAN-CANCER / FOUNDER MUTATIONS / ASHKENAZI JEWS / COMMON BRCA1 / WOMEN / FREQUENCY / RISK / FAMILIES / JEWISH / SAMPLE
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26671201
Datenquelle: BASE; Originalkatalog
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Link(s) : https://hdl.handle.net/11370/8028527f-b9a7-4397-bc7b-daba831417fc