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The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations |
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| Authors: | Teresa M Rudkin Nancy Hamel Maria Galvez Frans Hogervorst Johan JP Gille Pål Møller Jaran Apold William D Foulkes |
| Affiliation: | (1) Department of Human Genetics, McGill University, Montreal, Canada;(2) Department of Medicine and Research Institute, McGill University Health Centre, Montreal, Canada;(3) Family Cancer Clinic, Department of Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands;(4) Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands;(5) Department of Cancer Genetics, The Norwegian Radium Hospital, N-0310 Oslo, Norway;(6) Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway;(7) Cancer Prevention Centre, Sir Mortimer B Davis-Jewish General Hospital, McGill University, Montreal, Canada |
| Abstract: | BackgroundAnalysis of the chromosomal background upon which a mutation occurs can be used to reconstruct the origins of specific disease-causing mutations. The relatively common BRCA1 mutation, 1135insA, has been previously identified as a Norwegian founder mutation. We performed haplotype analysis of individuals from breast and ovarian cancer families from four different ethnic backgrounds who had been identified as carriers of the BRCA1: 1135insA mutation. |
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