Finch A, Wang M, Fine A, Atri L, Khalouei S, Pupavac M, Rosen B, Eisen A, Elser C, Charames G, Metcalfe K, Chang M C, Narod S A, Lerner-Ellis J
Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.
Sunnybrook Odette Cancer Centre, Sunnybrook Regional Cancer Centre, Toronto, Ontario, Canada.
Clin Genet. 2016 Mar;89(3):304-11. doi: 10.1111/cge.12647. Epub 2015 Aug 31.
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.
2001年，安大略省开始对有乳腺癌或卵巢癌高风险的女性进行BRCA1和BRCA2基因检测。截至目前，安大略省已有超过3万人接受了检测。检测对象为符合13项标准中任何一项的所有安大略省居民。我们报告了2007年至2014年在西奈山医院进行的检测结果。共有4726人接受了检测，其中764人（16.2%）被发现携带致病性变异（突变）。在3684名未携带已知家族性BRCA突变而接受检测的女性和男性中，331人（9.0%）被发现携带突变。在1042名因已知家族突变而接受检测的女性和男性中，433人（41.6%）检测结果呈阳性。有603名女性突变携带者，其中303人患有乳腺癌或卵巢癌（50%），16人患有其他癌症（2.3%）。在284名未受影响的女性携带者中，242人（85%）因已知家族突变而接受检测，42人（15%）是家族中首个接受检测的人。通过更加强调招募已知突变携带者的未受影响的女性亲属进行检测，新发现的携带者中超过一半将是未受影响的。
