Simon Michael S, Petrucelli Nancie
Division of Hematology and Oncology, Karmanos Cancer Institute, Wayne State University, Detroit, MI, USA.
Methods Mol Biol. 2009;471:487-500. doi: 10.1007/978-1-59745-416-2_25.
Breast cancer is a significant cause of morbidity and mortality in the United States. Although breast cancer is more common among White American (WA) women, incidence rates are higher among young African American (AA) women. Approximately 5-10% of all breast cancer can be accounted for by germline mutations in the breast cancer (BRCA)1 and BRCA2 genes responsible for hereditary breast and ovarian cancer (HBOC) syndrome. Although genetic counseling (GC) and genetic testing (GT) for HBOC have become widely accepted by the WA population, cancer genetic services are underused among AA. Many investigators have evaluated a wide spectrum of BRCA1 and BRCA2 mutations in the AA and African population with the possible identification of African founder mutations. Barriers to GC and GT include lack of knowledge and/or negative attitudes regarding genetics and genetics research, and concerns regarding the potential for racial discrimination. It is important for future research to focus on ways in which to eliminate barriers to GC and GT to alleviate disparity in the use of genetic services among high-risk AA women.
乳腺癌是美国发病和死亡的一个重要原因。尽管乳腺癌在美国白人(WA)女性中更为常见,但年轻的非裔美国(AA)女性发病率更高。所有乳腺癌中约5-10%可归因于与遗传性乳腺癌和卵巢癌(HBOC)综合征相关的乳腺癌(BRCA)1和BRCA2基因的种系突变。尽管针对HBOC的遗传咨询(GC)和基因检测(GT)已被WA人群广泛接受,但癌症遗传服务在AA人群中的使用不足。许多研究人员评估了AA和非洲人群中广泛的BRCA1和BRCA2突变,可能鉴定出非洲始祖突变。GC和GT的障碍包括对遗传学和遗传学研究缺乏了解和/或持消极态度,以及对种族歧视可能性的担忧。未来的研究重点应放在消除GC和GT障碍的方法上,以缓解高危AA女性在遗传服务使用方面的差异。