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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
DG. O'Mahony, SJ. Ramus, MC. Southey, NS. Meagher, A. Hadjisavvas, EM. John, U. Hamann, EN. Imyanitov, IL. Andrulis, P. Sharma, MB. Daly, CR. Hake, JN. Weitzel, A. Jakubowska, AK. Godwin, A. Arason, A. Bane, J. Simard, P. Soucy, MA. Caligo, PL....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, Research Support, U.S. Gov't, Non-P.H.S., Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
UL1 TR000124
NCATS NIH HHS - United States
U19 CA148112
NCI NIH HHS - United States
R01 CA260132
NCI NIH HHS - United States
R01 CA128978
NCI NIH HHS - United States
U19 CA148065
NCI NIH HHS - United States
P20 GM130423
NIGMS NIH HHS - United States
U10 CA180822
NCI NIH HHS - United States
RC4 CA153828
NCI NIH HHS - United States
U10 CA180888
NCI NIH HHS - United States
R25 CA112486
NCI NIH HHS - United States
P30 CA008748
NCI NIH HHS - United States
R01 CA140323
NCI NIH HHS - United States
R01 CA214545
NCI NIH HHS - United States
UM1 CA164920
NCI NIH HHS - United States
U10 CA180868
NCI NIH HHS - United States
UL1 TR001881
NCATS NIH HHS - United States
U19 CA148537
NCI NIH HHS - United States
NLK
Free Medical Journals
od 1947 do Před 1 rokem
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
- 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
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.
Basser Center for BRCA Abramson Cancer Center University of Pennsylvania Philadelphia PA 19066 USA
Biosciences Laboratory IRCCS Istituto Romagnolo per lo Studio dei Tumori Dino Amadori Meldola Italy
Biostatistics Unit The Cyprus Institute of Neurology and Genetics Nicosia 2371 Cyprus
BMC Faculty of Medicine University of Iceland Reykjavik 101 Iceland
Cancer Epidemiology Division Cancer Council Victoria Melbourne VIC 3004 Australia
Cancer Research UK Cambridge Institute University of Cambridge Cambridge CB2 0RE UK
Center for Genomic Medicine Rigshospitalet Copenhagen University Hospital Copenhagen DK 2100 Denmark
Center for Medical Genetics NorthShore University HealthSystem Evanston IL 60201 USA
Centre for Cancer Research The Westmead Institute for Medical Research Sydney Australia
Centre for Medical Genetics Ghent University Gent 9000 Belgium
Centro de Investigación en Red de Enfermedades Raras Madrid 28029 Spain
Clinical Cancer Research Center Aalborg University Hospital Aalborg 9000 Denmark
Clinical Genetics Karolinska Institutet Stockholm 171 76 Sweden
Department of Biomedical Data Science Stanford University School of Medicine Stanford CA 94305 USA
Department of Cancer Biology and Genetics The Ohio State University Columbus OH 43210 USA
Department of Clinical Genetics Fox Chase Cancer Center Philadelphia PA 19111 USA
Department of Clinical Medicine Aalborg University Aalborg 9000 Denmark
Department of Clinical Oncology A C Camargo Cancer Center São Paulo 1509900 Brazil
Department of Clinical Pathology The University of Melbourne Melbourne VIC 3010 Australia
Department of Gynaecological Oncology Westmead Hospital Sydney NSW 2145 Australia
Department of Molecular Genetics University of Toronto Toronto ON M5S 1A8 Canada
Department of Obstetrics and Gynecology Oregon Health and Science University Portland OR 97239 USA
Department of Oncology Lund University and Skåne University Hospital Lund 222 41 Sweden
Department of Pathology Landspitali University Hospital Reykjavik 101 Iceland
Department of Population Sciences Beckman Research Institute of City of Hope Duarte CA 91010 USA
Department of Radiation Oncology Dana Farber Cancer Institute Boston MA 2215 USA
Departments of Pediatrics and Medicine Columbia University New York NY 10032 USA
Fundación Pública Galega de Medicina Xenómica Santiago de Compostela 15706 Spain
Genetics Service Fundación Jiménez Díaz Madrid 28040 Spain
Genome Diagnostics Program IFOM ETS the AIRC Institute of Molecular Oncology Milan 20139 Italy
Gynaecology Research Unit Hannover Medical School Hannover 30625 Germany
Human Genetics Group Spanish National Cancer Research Centre Madrid 28029 Spain
Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOV IRCCS Padua 35128 Italy
Knight Cancer Institute Oregon Health and Science University Portland OR 97239 USA
Latvian Biomedical Research and Study Centre Riga LV 1067 Latvia
LIFE Leipzig Research Centre for Civilization Diseases University of Leipzig Leipzig 04103 Germany
Magee Womens Hospital University of Pittsburgh School of Medicine Pittsburgh PA 15213 USA
Molecular Diagnostics Aalborg University Hospital Aalborg 9000 Denmark
Molecular Genetics of Breast Cancer German Cancer Research Center Heidelberg 69120 Germany
Molecular Oncology Laboratory CIBERONC Hospital Clinico San Carlos IdISSC Madrid 28040 Spain
N N Petrov Institute of Oncology St Petersburg 197758 Russia
Oncology Center Hospital Sirio Libanes São Paulo 01308 050 Brazil
Peter MacCallum Cancer Centre Melbourne VIC 3000 Australia
Population Health Program QIMR Berghofer Medical Research Institute Brisbane QLD 4006 Australia
School of Medicine and Biomedical Sciences Institute University of Porto Porto 4050 013 Portugal
Service de Génétique Institut Curie Paris 75005 France
Sir Peter MacCallum Department of Oncology The University of Melbourne Melbourne VIC 3000 Australia
SOD Genetica Molecolare University Hospital Pisa 56126 Italy
State Research Institute Centre for Innovative Medicine Vilnius 8410 Lithuania
The University of Chicago Pritzker School of Medicine Chicago IL 60637 USA
The University of Kansas Cancer Center Kansas City MO 66160 USA
The University of Sydney Sydney NSW 2145 Australia
Unit of Hereditary Cancer IRCCS Ospedale Policlinico San Martino Genoa 16132 Italy
Unit of Pathology IRCCS Ospedale Policlinico San Martino Genoa 16132 Italy
Waukesha Memorial Hospital Pro Health Care Waukesha WI 53188 USA
Citace poskytuje Crossref.org
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