Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

Autor: O'Mahony DG; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, 2371, Cyprus.; Department of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, 2371, Cyprus., Ramus SJ; 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., Southey MC; 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 NS; 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 A; Department of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, 2371, Cyprus., John EM; Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, 94304, USA., Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, 69120, Germany., Imyanitov EN; N.N. Petrov Institute of Oncology, St. Petersburg, 197758, Russia., Andrulis IL; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, M5G 1×5, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A8, Canada., Sharma P; Department of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, 66205, USA., Daly MB; Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, 19111, USA., Hake CR; Waukesha Memorial Hospital-Pro Health Care, Waukesha, WI, 53188, USA., Weitzel JN; The University of Kansas Cancer Center, Kansas City, MO, 66160, USA., Jakubowska A; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, 171-252, Poland.; Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, 171-252, Poland., Godwin AK; Department of Pathology and Laboratory Medicine, The University of Kansas Medical Center, Kansas City, KS, 66160, USA., Arason A; Department of Pathology, Landspitali University Hospital, Reykjavik, 101, Iceland.; BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, 101, Iceland., Bane A; Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, Hamilton, ON, L8V 1C3, Canada., Simard J; Genomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, G1V 4G2, Canada., Soucy P; Genomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, G1V 4G2, Canada., Caligo MA; SOD Genetica Molecolare, University Hospital, Pisa, 56126, Italy., Mai PL; Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213, USA., Claes KBM; Centre for Medical Genetics, Ghent University, Gent, 9000, Belgium., Teixeira MR; Department of Laboratory Genetics, Portuguese Oncology Institute of Porto (IPO Porto)/Comprehensive Cancer Center, Porto, 4200-072, Portugal.; School of Medicine and Biomedical Sciences Institute (ICBAS), University of Porto, Porto, 4050-013, Portugal., Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY, 10032, USA., Lazaro C; Hereditary Cancer Program, ONCOBELL-IDIBELL-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, 08908, Spain., Hulick PJ; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, 60201, USA.; The University of Chicago Pritzker School of Medicine, Chicago, IL, 60637, USA., Toland AE; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, 43210, USA., Pedersen IS; Molecular Diagnostics, Aalborg University Hospital, Aalborg, 9000, Denmark.; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, 9000, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, 9000, Denmark., Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, 91010, USA., Vega A; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, 28029, Spain.; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, 15706, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, 15706, Spain., de la Hoya M; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, 28040, Spain., Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, 00290, Finland., Dhawan M; Cancer Genetics and Prevention Program, University of California San Francisco, San Francisco, CA, 94143-1714, USA., Zampiga V; Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, Italy., Danesi R; Romagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, 47014, Italy., Varesco L; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy., Gismondi V; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy., Vellone VG; Unit of Pathology, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy., James PA; Department of Gynecology and Obstetrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, 14049-900, Brazil., Janavicius R; Faculty of Medicine, Institute of Biomedical Sciences, Department of Human and Medical Genetics, Vilnius University, Vilnius, LT-03101, Lithuania.; State Research Institute Centre for Innovative Medicine, Vilnius, 8410, Lithuania., Nikitina-Zake L; Latvian Biomedical Research and Study Centre, Riga, LV-1067, Latvia., Nielsen FC; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, DK-2100, Denmark., van Overeem Hansen T; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, DK-2100, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, , University of Copenhagen, Copenhagen, 2200, Denmark., Pejovic T; Department of Obstetrics and Gynecology, Oregon Health & Science University, Portland, OR, 97239, USA.; Knight Cancer Institute, Oregon Health & Science University, Portland, OR, 97239, USA., Borg A; Department of Oncology, Lund University and Skåne University Hospital, Lund, 222 41, Sweden., Rantala J; Clinical Genetics, Karolinska Institutet, Stockholm, 171 76, Sweden., Offit K; Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA., Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, 35128, Italy., Nathanson KL; Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, 19066, USA., Domchek SM; Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, 19066, USA., Osorio A; Human Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, 28029, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, 28029, Spain.; Genetics Service, Fundación Jiménez Díaz, Madrid, 28040, Spain., García MJ; Computational Oncology Group, Structural Biology Programme, Spanish National Cancer Research Centre (CNIO), Madrid, 28029, Spain., Karlan BY; David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, 90095, USA., De Fazio A; The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, Sydney, NSW, Australia.; Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney, Australia.; Department of Gynaecological Oncology, Westmead Hospital, Sydney, NSW, 2145, Australia.; The University of Sydney, Sydney, NSW, 2145, Australia., Bowtell D; Peter MacCallum Cancer Centre, Melbourne, VIC, 3000, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, 3000, Australia., McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK., Leslie G; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK., Parsons MT; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Dörk T; Gynaecology Research Unit, Hannover Medical School, Hannover, 30625, Germany., Speith LM; Gynaecology Research Unit, Hannover Medical School, Hannover, 30625, Germany., Dos Santos ES; Service de Génétique, Institut Curie, Paris, 75005, France.; Oncology Center, Hospital Sirio-Libanes, São Paulo, 01308-050, Brazil.; Department of Clinical Oncology, A.C.Camargo Cancer Center, São Paulo, 1509900, Brazil., da Costa AABA; Department of Clinical Oncology, A.C.Camargo Cancer Center, São Paulo, 1509900, Brazil.; Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA, 2215, USA., Radice P; Unit of Preventive Medicine: Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, 20133, Italy., Peterlongo P; Genome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology, Milan, 20139, Italy., Papi L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, 27571, Italy., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, 04107, Germany.; LIFE - Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, 04103, Germany., Hahnen E; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany., Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50931, Germany., Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, 50937, Germany., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, CB1 8RN, UK., Tischkowitz M; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, H4A 3J1, Canada.; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, CB2 0QQ, UK., Singer CF; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, 1090, Austria., Tan YY; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, 1090, Austria., Whittemore AS; Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA., Sieh W; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA., Brenton JD; Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, CB2 0RE, UK., Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, 15310, Greece., Fostira F; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, 15310, Greece., Konstantopoulou I; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, 15310, Greece., Soukupova J; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 12000, Czech Republic., Vocka M; Department of Oncology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 12000, Czech Republic., Chenevix-Trench G; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Pharoah PDP; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, CB1 8RN, UK., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK., Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA., Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia., Michailidou K; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, 2371, Cyprus. kyriakimi@cing.ac.cy.; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK. kyriakimi@cing.ac.cy.
Jazyk: angličtina
Zdroj: British journal of cancer [Br J Cancer] 2023 Jun; Vol. 128 (12), pp. 2283-2294. Date of Electronic Publication: 2023 Apr 19.
DOI: 10.1038/s41416-023-02263-5
Abstrakt: 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.
(© 2023. The Author(s).)
Databáze: MEDLINE
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