Trottier M, Lunn J, Butler R, Curling D, Turnquest T, Francis W, Halliday D, Royer R, Zhang S, Li S, Thompson I, Donenberg T, Hurley J, Akbari M R, Narod S A
Bahamas Breast Cancer Initiative Foundation, Nassau, Bahamas.
Department of Hematology and Oncology, Doctors Hospital, Nassau, Bahamas.
Clin Genet. 2016 Mar;89(3):328-31. doi: 10.1111/cge.12602. Epub 2015 May 31.
Population-based testing for BRCA1/2 mutations detects a high proportion of carriers not identified by cancer family history-based testing. We sought to determine whether population-based testing is an effective approach to genetic testing in the Bahamas, where 23% of women with breast cancer carry one of seven founder mutations in the BRCA1 or BRCA2 gene. We determined the prevalence of founder BRCA mutations in 1847 Bahamian women without a personal history of breast or ovarian cancer, unselected for age or family history. We found that 2.8% (20/705) of unaffected women with a family history of breast/ovarian cancer and 0.09% (1/1089) of unaffected women without a family history carry a BRCA mutation. A total of 38% of unaffected women with a known mutation in the family were found to carry the familial mutation. We previously suggested that all Bahamian women with breast or ovarian cancer be offered genetic testing. These current data suggest that additionally all unaffected Bahamian women with a family history of breast/ovarian cancer should be offered genetic testing for the founder BRCA mutations.
基于人群的BRCA1/2基因突变检测能发现很大一部分通过基于癌症家族史检测未能识别出的携带者。我们试图确定在巴哈马，基于人群的检测是否是一种有效的基因检测方法，在那里23%的乳腺癌女性携带BRCA1或BRCA2基因的七种奠基者突变之一。我们确定了1847名无乳腺癌或卵巢癌个人病史、未根据年龄或家族史进行选择的巴哈马女性中奠基者BRCA突变的患病率。我们发现，有乳腺癌/卵巢癌家族史的未受影响女性中有2.8%（20/705）携带BRCA突变，无家族史的未受影响女性中有0.09%（1/1089）携带BRCA突变。在家族中有已知突变的未受影响女性中，共有38%被发现携带家族性突变。我们之前建议为所有患有乳腺癌或卵巢癌的巴哈马女性提供基因检测。目前这些数据表明，此外，所有有乳腺癌/卵巢癌家族史的未受影响巴哈马女性都应接受针对奠基者BRCA突变的基因检测。
