title: Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.
abstract: In 2001, genetic testing for BRCA1 and BRCA2 was introduced in Ontario, for women at high-risk of breast or ovarian cancer. To date over 30,000 individuals have been tested throughout Ontario. Testing was offered to all Ontario residents who were eligible under any of 13 criteria. We report the results of tests conducted at Mount Sinai Hospital from 2007 to 2014. A total of 4726 individuals were tested, 764 (16.2%) were found to carry a pathogenic variant (mutation). Among 3684 women and men who underwent testing without a known familial BRCA mutation, 331 (9.0%) were found to carry a mutation. Among 1042 women and men tested for a known family mutation, 433 (41.6%) were positive. There were 603 female mutation carriers, of these, 303 were affected with breast or ovarian cancer (50%) and 16 with another cancer (2.3%). Of 284 unaffected female carriers, 242 (85%) were tested for a known family mutation and 42 (15%) were the first person in the family to be tested. By placing greater emphasis on recruiting unaffected female relatives of known mutation carriers for testing, greater than one-half of newly identified carriers will be unaffected.
authors.affiliation: Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.|Sunnybrook Odette Cancer Centre, Sunnybrook Regional Cancer Centre, Toronto, Ontario, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Finch
authors.affiliation: Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.|Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Wang
authors.affiliation: Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Fine
authors.affiliation: Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
authors.forename: L
authors.initials: L
authors.lastname: Atri
authors.affiliation: Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.|Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Khalouei
authors.affiliation: Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Pupavac
authors.affiliation: Department of Obstetrics and Gynecology, University of Toronto and Gynecologic Oncology, Princess Margaret Hospital, Toronto, Ontario, Canada.
authors.forename: B
authors.initials: B
authors.lastname: Rosen
authors.affiliation: Sunnybrook Odette Cancer Centre, Sunnybrook Regional Cancer Centre, Toronto, Ontario, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Eisen
authors.affiliation: Division of Medical Oncology and Hematology, Department of Medicine, Mount Sinai Hospital and The Princess Margaret Cancer Center.
authors.forename: C
authors.initials: C
authors.lastname: Elser
authors.affiliation: Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.|Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: G
authors.identifier: http://orcid.org/0000-0002-5937-9276
authors.initials: G
authors.lastname: Charames
authors.affiliation: Lawrence S. Bloomberg School of Nursing, University of Toronto, Toronto, Ontario, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Metcalfe
authors.affiliation: Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.|Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: M C
authors.initials: MC
authors.lastname: Chang
authors.affiliation: Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.
authors.forename: S A
authors.initials: SA
authors.lastname: Narod
authors.affiliation: Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.|Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.|Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Lerner-Ellis
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009864:Ontario; D010051:Ovarian Neoplasms / Q000235:genetics / Q000378:metabolism
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA1; BRCA2; breast cancer; genetic testing; ovarian cancer