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Autor
Andrulis, Irene L 1 Antoniou, Antonis C 1 Boonen, Susanne E 1 Borg, Ake 1 Caldes, Trinidad 1 Caligo, Maria A 1 Caputo, Sandrine M 1 Chenevix-Trench, Georgia 1 Couch, Fergus J 1 Domchek, Susan M 1 Eccles, Diana M 1 Engel, Christoph 1 Foretova, Lenka 1 Garber, Judy 1 Gerdes, Anne-Marie 1 Goldgar, David E 1 Greene, Mark H 1 Hamann, Ute 1 Hansen, Thomas V O 1 Hopper, John L 1
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Pracoviště
Basser Center for BRCA Abramson Cance... 1 Cancer Control and Population Science... 1 Cancer Epidemiology Division Cancer C... 1 Cancer Genetics Centre Hong Kong Sana... 1 Center for Cancer Genetics and Preven... 1 Center for Clinical Cancer Genetics T... 1 Center for Hereditary Breast and Ovar... 1 Center for Hereditary Tumors HELIOS K... 1 Center for Integrated Oncology Facult... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Epidemiology and Biostatis... 1 Clinical Cancer Research Center and D... 1 Department of Cancer Biology and Gene... 1 Department of Cancer Epidemiology and... 1 Department of Clinical Genetics Leide... 1 Department of Clinical Genetics Odens... 1 Department of Clinical Genetics Rigsh... 1 Department of Clinical Genetics Sygeh... 1 Department of Clinical Medicine The F... 1 Department of Clinical Pathology Melb... 1
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Autor
Andrulis, Irene L 1 Antoniou, Antonis C 1 Boonen, Susanne E 1 Borg, Ake 1 Caldes, Trinidad 1 Caligo, Maria A 1 Caputo, Sandrine M 1 Chenevix-Trench, Georgia 1 Couch, Fergus J 1 Domchek, Susan M 1 Eccles, Diana M 1 Engel, Christoph 1 Foretova, Lenka 1 Garber, Judy 1 Gerdes, Anne-Marie 1 Goldgar, David E 1 Greene, Mark H 1 Hamann, Ute 1 Hansen, Thomas V O 1 Hopper, John L 1
- Organizace
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Pracoviště
Basser Center for BRCA Abramson Cance... 1 Cancer Control and Population Science... 1 Cancer Epidemiology Division Cancer C... 1 Cancer Genetics Centre Hong Kong Sana... 1 Center for Cancer Genetics and Preven... 1 Center for Clinical Cancer Genetics T... 1 Center for Hereditary Breast and Ovar... 1 Center for Hereditary Tumors HELIOS K... 1 Center for Integrated Oncology Facult... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Epidemiology and Biostatis... 1 Clinical Cancer Research Center and D... 1 Department of Cancer Biology and Gene... 1 Department of Cancer Epidemiology and... 1 Department of Clinical Genetics Leide... 1 Department of Clinical Genetics Odens... 1 Department of Clinical Genetics Rigsh... 1 Department of Clinical Genetics Sygeh... 1 Department of Clinical Medicine The F... 1 Department of Clinical Pathology Melb... 1
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ROAD: Directory of Open Access Scholarly Resources od 1998
PubMed
34906479
DOI
10.1016/j.gim.2021.08.016
Knihovny.cz E-zdroje
PURPOSE: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with protein truncating (PTC) variants. METHODS: We collected 582 informative pedigrees segregating 1 of 28 missense PVs in BRCA1 and 153 pedigrees segregating 1 of 12 missense PVs in BRCA2. We analyzed 324 pedigrees with PTC variants in BRCA1 and 214 pedigrees with PTC variants in BRCA2. Cancer risks were estimated using modified segregation analysis. RESULTS: Estimated breast cancer risks were markedly lower for women aged >50 years carrying BRCA1 missense PVs than for the women carrying BRCA1 PTC variants (hazard ratio [HR] = 3.9 [2.4-6.2] for PVs vs 12.8 [5.7-28.7] for PTC variants; P = .01), particularly for missense PVs in the BRCA1 C-terminal domain (HR = 2.8 [1.4-5.6]; P = .005). In case of BRCA2, for women aged >50 years, the HR was 3.9 (2.0-7.2) for those heterozygous for missense PVs compared with 7.0 (3.3-14.7) for those harboring PTC variants. BRCA1 p.[Cys64Arg] and BRCA2 p.[Trp2626Cys] were associated with particularly low risks of breast cancer compared with other PVs. CONCLUSION: These results have important implications for the counseling of at-risk women who harbor missense PVs in the BRCA1/2 genes.
- MeSH
- genetická predispozice k nemoci MeSH
- genetické testování metody MeSH
- geny BRCA1 MeSH
- geny BRCA2 MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory prsu * genetika patologie MeSH
- nádory vaječníků * genetika MeSH
- protein BRCA1 genetika MeSH
- protein BRCA2 genetika MeSH
- zárodečné mutace genetika MeSH
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- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
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