-
Autor
Andrulis, Irene L 1 Antoniou, Antonis C 1 Arason, Adalgeir 1 Bane, Anita 1 Borg, Ake 1 Bowtell, David 1 Brenton, James D 1 Caligo, Maria A 1 Chenevix-Trench, Georgia 1 Chung, Wendy K 1 Claes, Kathleen B M 1 Daly, Mary B 1 Danesi, Rita 1 De Fazio, Anna 1 Dhawan, Mallika 1 Domchek, Susan M 1 Dos Santos, Elizabeth Santana 1 Dörk, Thilo 1 Easton, Douglas F 1 Engel, Christoph 1
- Organizace
-
Pracoviště
Adult Cancer Program Lowy Cancer Rese... 1 BMC Faculty of Medicine University of... 1 Basser Center for BRCA Abramson Cance... 1 Biosciences Laboratory IRCCS Istituto... 1 Biostatistics Unit The Cyprus Institu... 1 Cancer Epidemiology Division Cancer C... 1 Cancer Genetics and Prevention Progra... 1 Cancer Research UK Cambridge Institut... 1 Center for Familial Breast and Ovaria... 1 Center for Genomic Medicine Rigshospi... 1 Center for Integrated Oncology Facult... 1 Center for Medical Genetics NorthShor... 1 Center for Molecular Medicine Cologne... 1 Centre for Biomedical Network Researc... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Cancer Research The Westme... 1 Centre for Medical Genetics Ghent Uni... 1 Centro de Investigación en Red de Enf... 1 Clinical Cancer Research Center Aalbo... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
-
Autor
Andrulis, Irene L 1 Antoniou, Antonis C 1 Arason, Adalgeir 1 Bane, Anita 1 Borg, Ake 1 Bowtell, David 1 Brenton, James D 1 Caligo, Maria A 1 Chenevix-Trench, Georgia 1 Chung, Wendy K 1 Claes, Kathleen B M 1 Daly, Mary B 1 Danesi, Rita 1 De Fazio, Anna 1 Dhawan, Mallika 1 Domchek, Susan M 1 Dos Santos, Elizabeth Santana 1 Dörk, Thilo 1 Easton, Douglas F 1 Engel, Christoph 1
- Organizace
-
Pracoviště
Adult Cancer Program Lowy Cancer Rese... 1 BMC Faculty of Medicine University of... 1 Basser Center for BRCA Abramson Cance... 1 Biosciences Laboratory IRCCS Istituto... 1 Biostatistics Unit The Cyprus Institu... 1 Cancer Epidemiology Division Cancer C... 1 Cancer Genetics and Prevention Progra... 1 Cancer Research UK Cambridge Institut... 1 Center for Familial Breast and Ovaria... 1 Center for Genomic Medicine Rigshospi... 1 Center for Integrated Oncology Facult... 1 Center for Medical Genetics NorthShor... 1 Center for Molecular Medicine Cologne... 1 Centre for Biomedical Network Researc... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Cancer Research The Westme... 1 Centre for Medical Genetics Ghent Uni... 1 Centro de Investigación en Red de Enf... 1 Clinical Cancer Research Center Aalbo... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
- O'Mahony, Denise G
- Ramus, Susan J
-
Southey, Melissa C
Autor Southey, Melissa C Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC, 3010, Australia Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, 3004, Australia
-
Meagher, Nicola S
Autor Meagher, Nicola S ORCID School of Clinical Medicine, University of New South Wales Medicine and Health, University of New South Wales Sydney, Sydney, NSW, 2052, Australia Adult Cancer Program, Lowy Cancer Research Centre, University of New South Wales Sydney, Sydney, NSW, 2052, Australia The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, Sydney, NSW, Australia
- Hadjisavvas, Andreas
- John, Esther M
- Hamann, Ute
- Imyanitov, Evgeny N
- Andrulis, Irene L
- Sharma, Priyanka
Freely Accessible Journals od 1947 do Před 1 rokem
PubMed Central od 1947 do Před 1 rokem
Europe PubMed Central od 1947 do Před 1 rokem
ProQuest Central od 2000-01-01 do Před 1 rokem
Open Access Digital Library od 1947-01-01
Open Access Digital Library od 1999-01-01
Nursing & Allied Health Database (ProQuest) od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest) od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest) od 2000-01-01 do Před 1 rokem
PubMed
37076566
DOI
10.1038/s41416-023-02263-5
Knihovny.cz E-zdroje
BACKGROUND: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system. METHODS: Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong). RESULTS: No histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis. CONCLUSIONS: We provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.
- MeSH
- genetická predispozice k nemoci MeSH
- lidé MeSH
- nádory prsu * MeSH
- nádory vaječníků * genetika MeSH
- protein BRCA1 genetika MeSH
- protein BRCA2 genetika MeSH
- virulence MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Research Support, U.S. Gov't, Non-P.H.S. MeSH
Sdílet
Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.