期刊
HUMAN MOLECULAR GENETICS
卷 25, 期 11, 页码 2256-2268出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddw094
关键词
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资金
- Spanish Instituto de Salud Carlos III - European Regional Development FEDER Funds [PI12/00539, PI15/00059, PI13/02030]
- French Ministry of Higher Education and Research
- University of Otago
- Mackenzie Charitable Foundation
- Health Research Council of New Zealand
- UK Higher Education Funding Council
- University of Southampton
- Cancer research UK
- FamilienHede Nielsen Foundation
- Cancer Research-UK
- National Institute of Health [CA128978, CA11616]
- NIH [CA128978, P50 CA116201]
- US Breast Cancer Research Foundation
- French National Cancer Institute
- Direction Generale de l'Offre des Soins (INCa-DGOS AAP/CFB/CI)
- French North-West Canceropole (CNO)
- Cancer Council Queensland [APP1086286]
- NHMRC [1061779, 1010719]
- National Breast Cancer Foundation
- National Health and Medical Research Council
- Queensland Cancer Fund
- Cancer Council of New South Wales
- Cancer Council of Victoria
- Cancer Council of Tasmania
- Cancer Council of South Australia
- Cancer Foundation of Western Australia
- German Cancer Aid [109076]
- Center for Molecular Medicine Cologne (CMMC)
- Cancer Research UK [C1287/A10118, C1287/A11990, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C1287/A12014]
- National Cancer Institute [UM1 CA164920]
- Breast Cancer Campaign forming Breast Cancer Now
- NHS
- Dietmar-Hopp Foundation
- Helmholtz Society
- German Cancer Research Center (DKFZ)
- Chief Physician Johan Boserup and LiseBoserup Fund
- Danish Medical Research Council
- Herlev Hospital
- Stockholm City Council
- KarolinskaInstitutet
- Stockholm Cancer Foundation
- Swedish Cancer Society
- Deutsche Krebshilfee.V. [70-2892-BR I]
- Hamburg Cancer Society
- German Cancer Research Center
- Federal Ministry of Education and Research (BMBF) Germany [01KH0402]
- Italian Association for Cancer Research (AIRC)
- Specialized Program of Research Excellence (SPORE) in Breast Cancer [CA116201]
- Breast Cancer Research Foundation
- VicHealth
- Cancer Council Victoria
- Australian NHMRC [209057, 251553, 504711]
- Marit and Hans Rausings Initiative Against Breast Cancer
- Swedish Medical Research Counsel
- CRUK [A490/A11021, C490/A16561]
- European Community [223175 (HEALTH-F2-2009-223175), 223175, HEALTH-F2-2009-223175]
- National Institutes of Health [CA128978]
- Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]
- Department of Defence [W81XWH-10-1-0341]
- Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer
- Komen Foundation for the Cure
- Ovarian Cancer Research Fund
- Cancer Research-UK [C1287/A10118, C12292/A11174]
- Cancer Research UK [20861, 11174, 10118] Funding Source: researchfish
- National Breast Cancer Foundation [IF-12-06] Funding Source: researchfish
- National Health and Medical Research Council of Australia [1061779] Funding Source: NHMRC
We confirm that BRCA1c.[594-2A > C;641A > G] should not be considered a high-risk pathogenic variant. Importantly, results from our detailed mRNA analysis suggest that BRCA-associated cancer risk is likely not markedly increased for individuals who carry a truncating variant in BRCA1 exons 9 or 10, or any other BRCA1 allele that permits 20-30% of tumor suppressor function. More generally, our findings highlight the importance of assessing naturally occurring alternative splicing for clinical evaluation of variants in disease-causing genes.
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