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Preventing ovarian cancer through genetic testing: a population‐based study
Author(s) -
Finch A.,
Bacopulos S.,
Rosen B.,
Fan I.,
Bradley L.,
Risch H.,
McLaughlin J.R.,
LernerEllis J.,
Narod S.A.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12313
Subject(s) - ovarian cancer , genetic testing , medicine , cancer , population , oncology , mutation , genetic counseling , gynecology , oophorectomy , gene , genetics , biology , pathology , environmental health , hysterectomy
Genetic testing for BRCA1 and BRCA2 gene mutations, in conjunction with preventive salpingo‐oophorectomy for mutation carriers, may be used to prevent a proportion of invasive ovarian cancers (‘personalized medicine’). We evaluated the potential utility of this approach at a population level by reviewing the pedigree information and genetic test results from 1342 ovarian cancer patients in Ontario. Of the 1342 patients tested, 176 patients had a BRCA1 or BRCA2 mutation; of these, 48 women would have qualified for testing prior to the development of cancer based on the eligibility criteria in place for the province of Ontario. In summary, 48 of 1342 unselected cases of ovarian cancer (3.6%) might have been prevented if genetic testing criteria were universally applied to all women in Ontario at risk for ovarian cancer.