1. Prevalence ofBRCA1/2germline mutations in 21 401 families with breast and ovarian cancer
- Author
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Raymonda Varon-Manteeva, Bernhard H. F. Weber, Michael Braun, C Scholz, N Herold, Kerstin Rhiem, Britta Bluemcke, Verena Zarghooni, Christoph Engel, Judit Horvath, Dieter Niederacher, Dorothee Speiser, Ulrike Faust, Nicolai Maass, Silke Zachariae, Pauline Wimberger, Nils Rahner, Rita K. Schmutzler, Karin Kast, Nicola Dikow, Eric Hahnen, Barbara Wappenschmidt, Günter Emons, Clemens Mueller-Reible, Norbert Arnold, Marion Kiechle, Nadine Lichey, Guntram Borck, Sarah Schott, Sylvia Stark, Bernd Auber, Christine Fischer, Jan Hauke, Nikolaus de Gregorio, Andrea Gehrig, Tanja Fehm, Alfons Meindl, and Nina Ditsch
- Subjects
Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Breast Neoplasms ,Pedigree chart ,Breast Neoplasms, Male ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Germline mutation ,Prevalence ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,Mutation detection ,Genetic Testing ,Germ-Line Mutation ,Genetics (clinical) ,Genetic testing ,BRCA2 Protein ,Ovarian Neoplasms ,Gynecology ,medicine.diagnostic_test ,BRCA1 Protein ,business.industry ,Cancer ,Middle Aged ,medicine.disease ,3. Good health ,030104 developmental biology ,030220 oncology & carcinogenesis ,Mutation (genetic algorithm) ,Female ,Ovarian cancer ,business - Abstract
Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and methods Data from 21 401 families were gathered between 1996 and 2014 in a clinical setting in the German Consortium for Hereditary Breast and Ovarian Cancer, comprising full pedigrees with cancer status of all individual members at the time of first counselling, and BRCA1/2 mutation status of the index patient. Results The overall BRCA1/2 mutation prevalence was 24.0% (95% CI 23.4% to 24.6%). Highest mutation frequencies were observed in families with at least two OCs (41.9%, 95% CI 36.1% to 48.0%) and families with at least one breast and one OC (41.6%, 95% CI 40.3% to 43.0%), followed by male BC with at least one female BC or OC (35.8%; 95% CI 32.2% to 39.6%). In families with a single case of early BC (
- Published
- 2016
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