Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.

Autor: McCuaig JM; Familial Breast & Ovarian Cancer Clinic, Princess Margaret Hospital Cancer Centre, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Stockley TL; Division of Clinical Laboratory Genetics and Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Shaw P; Department of Pathology, University Health Network, Toronto, Ontario, Canada., Fung-Kee-Fung M; Department of Obstetrics and Gynecology, The Ottawa Hospital, Ottawa, Ontario, Canada., Altman AD; Department of Gynecologic Oncology, University of Manitoba, CancerCare Manitoba, Winnipeg, Manitoba, Canada., Bentley J; Department of Obstetrics and Gynecology, Nova Scotia Health Authority, Halifix, Nova Scotia, Canada., Bernardini MQ; Department of Gynecologic Oncology, Princess Margaret Hospital Cancer Centre, Toronto, Ontario, Canada., Cormier B; Department of Obstetrics and Gynecology, Université de Montreal, Montreal, Quebec, Canada., Hirte H; Department of Gynecologic Oncology, Juravinski Cancer Centre, Hamilton, Ontario, Canada., Kieser K; Department of Gynecologic Oncology, Nova Scotia Health Authority, Halifax, Nova Scotia, Canada., MacMillan A; Provincial Medical Genetics Program, Eastern Health, St John's, Newfoundland and Labrador, Canada., Meschino WS; Department of Genetics, North York General Hospital, Toronto, Ontario, Canada., Panabaker K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Perrier R; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Provencher D; Department of Obstetrics and Gynecology, Université de Montreal, Montreal, Quebec, Canada., Schrader KA; Hereditary Cancer Program, British Columbia Cancer Agency, Vancouver, British Columbia, Canada., Serfas K; Department of Genetics and Metabolism, Winnipeg Regional Health Authority, Winnipeg, Manitoba, Canada., Tomiak E; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Wong N; Department of Medical Genetics, CIUSSS West-Central Montreal Jewish General Hospital, Montreal, Canada., Young SS; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Gotlieb WH; Department of Gynecologic Oncology, Jewish General Hospital, Montreal, Quebec, Canada., Hoskins P; Department of Gynecologic Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada., Kim RH; Familial Breast & Ovarian Cancer Clinic, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Toronto, Ontario, Canada.; Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Jazyk: angličtina
Zdroj: Journal of medical genetics [J Med Genet] 2018 Sep; Vol. 55 (9), pp. 571-577. Date of Electronic Publication: 2018 Jul 24.
DOI: 10.1136/jmedgenet-2018-105472
Abstrakt: The landscape of genetic testing in ovarian cancer patients has changed dramatically in recent years. The therapeutic benefits of poly ADP-ribose polymerase (PARP) inhibitors in treatment of BRCA1/2 -related ovarian cancers has resulted in an increased demand and urgency for genetic testing results, while technological developments have led to widespread use of multi-gene cancer panels and development of tumour testing protocols. Traditional genetic counselling models are no longer sustainable and must evolve to match the rapid evolution of genetic testing technologies and developments in personalized medicine. Recently, representatives from oncology, clinical genetics, molecular genetics, pathology, and patient advocacy came together to create a national multi-disciplinary Canadian consortium. By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline BRCA1/2 testing and genetic counselling in women with ovarian cancer. This article serves to provide an overview of the recent evolution of genetic assessment for BRCA1/2 -associated gynecologic malignancies and outline a Canadian roadmap to facilitate change, improve genetic testing rates, and ultimately improve outcomes for hereditary ovarian cancer patients and their families.
Competing Interests: Competing interests: ADA, JB, WHG, KK, TLS, NW and JMM report grants from AstraZeneca. ADA and JB report grants from Pfizer. ADA reports grants from Pfizer, Array Biopharmaceutical and the Canadian partnership against cancer. ADA, JB, MQB, WHG, HH, WSM, RP, TLS, SSY and JMM report personal fees from AstraZeneca. JB and HH report personal fees from Roche. ADA reports personal fees from Sanofi.
(© Author(s) (or their employer(s)) 2018. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze: MEDLINE