-
Autor
Adlard, Julian 1 Andrulis, Irene L 1 Antoniou, Antonis C 1 Arason, Adalgeir 1 Arnold, Norbert 1 Arun, Banu K 1 Balmaña, Judith 1 Barnes, Daniel R 1 Barrowdale, Daniel 1 Benitez, Javier 1 Bernstein, Jonine L 1 Borg, Ake 1 Caldés, Trinidad 1 Caligo, Maria A 1 Chenevix-Trench, Georgia 1 Chung, Wendy K 1 Claes, Kathleen B M 1 Collée, J Margriet 1 Couch, Fergus J 1 Daly, Mary B 1
- Organizace
-
Pracoviště
BMC Faculty of Medicine University of... 1 Basser Center for BRCA Abramson Cance... 1 Biomedical Sciences Institute Univers... 1 Breast Cancer Research Programme Canc... 1 Cancer Genetics Service National Canc... 1 Cancer Genetics and Prevention Progra... 1 Cancer Research Institute Seoul Natio... 1 Cancer Risk and Prevention Clinic Dan... 1 Center for Bioinformatics and Functio... 1 Center for Clinical Cancer Genetics T... 1 Center for Familial Breast and Ovaria... 1 Center for Integrated Oncology Facult... 1 Center for Medical Genetics NorthShor... 1 Center for Molecular Medicine Cologne... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Epidemiology and Biostatis... 1 Centre for Medical Genetics Ghent Uni... 1 Centro de Investigación en Red de Enf... 1 Chronic Disease Epidemiology Yale Sch... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
-
Autor
Adlard, Julian 1 Andrulis, Irene L 1 Antoniou, Antonis C 1 Arason, Adalgeir 1 Arnold, Norbert 1 Arun, Banu K 1 Balmaña, Judith 1 Barnes, Daniel R 1 Barrowdale, Daniel 1 Benitez, Javier 1 Bernstein, Jonine L 1 Borg, Ake 1 Caldés, Trinidad 1 Caligo, Maria A 1 Chenevix-Trench, Georgia 1 Chung, Wendy K 1 Claes, Kathleen B M 1 Collée, J Margriet 1 Couch, Fergus J 1 Daly, Mary B 1
- Organizace
-
Pracoviště
BMC Faculty of Medicine University of... 1 Basser Center for BRCA Abramson Cance... 1 Biomedical Sciences Institute Univers... 1 Breast Cancer Research Programme Canc... 1 Cancer Genetics Service National Canc... 1 Cancer Genetics and Prevention Progra... 1 Cancer Research Institute Seoul Natio... 1 Cancer Risk and Prevention Clinic Dan... 1 Center for Bioinformatics and Functio... 1 Center for Clinical Cancer Genetics T... 1 Center for Familial Breast and Ovaria... 1 Center for Integrated Oncology Facult... 1 Center for Medical Genetics NorthShor... 1 Center for Molecular Medicine Cologne... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Epidemiology and Biostatis... 1 Centre for Medical Genetics Ghent Uni... 1 Centro de Investigación en Red de Enf... 1 Chronic Disease Epidemiology Yale Sch... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
- Lakeman, Inge M M
- van den Broek, Alexandra J
- Vos, Juliën A M
- Barnes, Daniel R
- Adlard, Julian
- Andrulis, Irene L
- Arason, Adalgeir
-
Arnold, Norbert
Autor Arnold, Norbert Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany
- Arun, Banu K
- Balmaña, Judith
Health & Medicine (ProQuest) od 2011-01-01 do 2021-12-31
ROAD: Directory of Open Access Scholarly Resources od 1998
PubMed
34113011
DOI
10.1038/s41436-021-01198-7
Knihovny.cz E-zdroje
PURPOSE: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. METHODS: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. RESULTS: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06-1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07-1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. CONCLUSION: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.
- MeSH
- dospělí MeSH
- genetická predispozice k nemoci MeSH
- heterozygot MeSH
- lidé MeSH
- mutace MeSH
- nádory prsu * diagnóza epidemiologie genetika MeSH
- protein BRCA1 genetika MeSH
- protein BRCA2 genetika MeSH
- retrospektivní studie MeSH
- rizikové faktory MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
Sdílet
Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.