Kast, Karin, Rhiem, Kerstin, Wappenschmidt, Barbara, Hahnen, Eric, Hauke, Jan, Bluemcke, Britta, Zarghooni, Verena, Herold, Natalie, Ditsch, Nina, Kiechle, Marion, Braun, Michael, Fischer, Christine, Dikow, Nicola, Schott, Sarah ORCID: 0000-0002-1714-1147, Rahner, Nils, Niederacher, Dieter, Fehm, Tanja, Gehrig, Andrea, Mueller-Reible, Clemens, Arnold, Norbert ORCID: 0000-0003-4523-8808, Maass, Nicolai, Borck, Guntram, de Gregorio, Nikolaus, Scholz, Caroline, Auber, Bernd, Varon-Manteeva, Raymonda, Speiser, Dorothee, Horvath, Judit, Lichey, Nadine, Wimberger, Pauline, Stark, Sylvia, Faust, Ulrike, Weber, Bernhard H. F., Emons, Gunter, Zachariae, Silke, Meindl, Alfons, Schmutzler, Rita K. and Engel, Christoph ORCID: 0000-0002-7247-282X (2016). Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J. Med. Genet., 53 (7). S. 465 - 472. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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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 (<36 years), mutations were found in 13.7% (95% CI 11.9% to 15.7%). Postmenopausal unilateral or bilateral BC did not increase the probability of mutation detection. Occurrence of premenopausal BC and OC in the same woman led to higher mutation frequencies compared with the occurrence of these two cancers in different individuals (49.0%; 95% CI 41.0% to 57.0% vs 31.5%; 95% CI 28.0% to 35.2%). Conclusions Our data provide guidance for healthcare professionals and decision-makers to identify individuals who should undergo genetic testing for hereditary breast and ovarian cancer. Moreover, it supports informed decision-making of counselees on the uptake of genetic testing.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Kast, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rhiem, KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wappenschmidt, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hauke, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bluemcke, BrittaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zarghooni, VerenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herold, NatalieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ditsch, NinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kiechle, MarionUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Braun, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fischer, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dikow, NicolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schott, SarahUNSPECIFIEDorcid.org/0000-0002-1714-1147UNSPECIFIED
Rahner, NilsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Niederacher, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fehm, TanjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gehrig, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller-Reible, ClemensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnold, NorbertUNSPECIFIEDorcid.org/0000-0003-4523-8808UNSPECIFIED
Maass, NicolaiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borck, GuntramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Gregorio, NikolausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scholz, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Auber, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Varon-Manteeva, RaymondaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Speiser, DorotheeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horvath, JuditUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lichey, NadineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wimberger, PaulineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stark, SylviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Faust, UlrikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Bernhard H. F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Emons, GunterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zachariae, SilkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Engel, ChristophUNSPECIFIEDorcid.org/0000-0002-7247-282XUNSPECIFIED
URN: urn:nbn:de:hbz:38-271590
DOI: 10.1136/jmedgenet-2015-103672
Journal or Publication Title: J. Med. Genet.
Volume: 53
Number: 7
Page Range: S. 465 - 472
Date: 2016
Publisher: BMJ PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 1468-6244
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
HEREDITARY BREAST; CLINICAL CHARACTERISTICS; RISK; GENES; WOMEN; RECOMMENDATIONS; FREQUENCIES; PATHOLOGY; BOADICEA; VARIANTSMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/27159

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