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Genetic Predisposition to Male Breast Cancer
M. Janatová, M. Borecká, P. Zemánková, K. Matějková, P. Nehasil, L. Černá, M. Černá, P. Dušková, T. Doležalová, L. Foretová, O. Havránek, J. Házová, K. Horáčková, M. Hovhannisyan, L. Hrušková, Š. Chvojka, M. Janíková, M. Kalousová, M. Kosařová,...
Jazyk angličtina Země Česko
Typ dokumentu časopisecké články
Grantová podpora
NU23-03-00150
Ministerstvo Zdravotnictví Ceské Republiky
NW24-03-00092
Ministerstvo Zdravotnictví Ceské Republiky
BBMRI_CZ LM2023033
Ministerstvo Zdravotnictví Ceské Republiky
DRO-VFN-64165
Ministerstvo Zdravotnictví Ceské Republiky
LX22NPO5102
Ministerstvo Školství, Mládeže a Tělovýchovy
COOPERATIO
Univerzita Karlova v Praze
SVV260631
Univerzita Karlova v Praze
UNCE/24/MED/022
Univerzita Karlova v Praze
NLK
Free Medical Journals
od 2000
Freely Accessible Science Journals
od 2000
ProQuest Central
od 2005-01-01
Health & Medicine (ProQuest)
od 2005-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2000
PubMed
39889220
DOI
10.14712/fb2024070050274
Knihovny.cz E-zdroje
- MeSH
- checkpoint kinasa 2 genetika MeSH
- dospělí MeSH
- genetická predispozice k nemoci * MeSH
- genetické testování MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory prsu u mužů * genetika MeSH
- protein BRCA1 genetika MeSH
- protein BRCA2 genetika MeSH
- senioři MeSH
- zárodečné mutace genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
Male breast cancer (mBC) is a rare cancer diagnosis that constitutes less than 1 % of all breast cancer cases globally. Genetic factors play an important role in the mBC risk. Germline pathogenic variants (PVs) in cancer predisposition genes could be identified in about 15 % of cases. We performed germline genetic testing in 248 Czech mBC patients and 3,626 non-cancer male controls using next-generation sequencing by the CZECANCA panel (226 genes). We identified 46/248 (18.5 %) carriers of PVs in the established mBC predisposition genes, primarily in BRCA2 (N = 34), less frequently in BRCA1 (N = 7) and PALB2 (N = 5). The presence of a PV in these genes significantly increased the mBC risk (OR 44.04; 5.82; and 8.26, respectively). Additionally, we identified 16 carriers of PVs in candidate mBC genes, but only PVs in CHEK2 were significantly associated with increased mBC risk (OR = 4.98). The significance of 26 germline alterations in 23/192 additionally analysed genes remained uncertain. The carriers of PVs in BRCA1 and CHEK2 were significantly younger (55.8 and 52.6 years, respectively) than non-carriers (64.8 years), and all carriers of PVs in the established genes had more frequently grade G3 tumours and positive family cancer history. Our study underscores the critical role of BRCA2 in mBC predisposition while also highlighting the potential contributions of additional genes that warrant further investigation. Moreover, it supports and justifies universal genetic testing for all mBC patients to generally improve early cancer detection and tailored treatment.
BIOCEV 1st Faculty of Medicine Charles University Prague Czech Republic
Centre for Medical Genetics and Reproductive Medicine GENNET Prague Czech Republic
CZECANCA consortium Czech Republic
Department of Biochemistry Faculty of Science Charles University Prague Czech Republic
Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic
Department of Genetics and Microbiology Faculty of Science Charles University Prague Czech Republic
Department of Medical Genetics PRONATAL Sanatorium Prague Czech Republic
Citace poskytuje Crossref.org
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