Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary's Hospital, Central Manchester Hospitals Foundation Trust, Manchester M13 9WL, UK.
Clin Genet. 2012 Aug;82(2):105-14. doi: 10.1111/j.1399-0004.2012.01859.x. Epub 2012 Apr 13.
Since the localization and discovery of the first high-risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high-risk genes conferring 40-85% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (20-40% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low-risk common alleles identified largely through genome-wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50-100 gene loci may be possible in the future utilizing next-generation technology.
自 1990 年首次定位和发现高危乳腺癌 (BC) 基因以来，人们在揭示其家族成分方面取得了重大进展。越来越多有 BC 风险的女性前来寻求有关其风险的建议，以及她们可以采取哪些措施来降低风险。迄今为止，已经确定了三组遗传易感性等位基因，其中高风险基因（BRCA1、BRCA2 和 TP53）可导致 40-85%的终身风险。中度风险基因（20-40%的风险）包括 PALB1、BRIP、ATM 和 CHEK2，以及通过全基因组关联研究确定的大量低风险常见等位基因。目前，虽然未来利用下一代技术可能可以检测多达 50-100 个基因座，但临床上广泛使用的只有 BRCA1、BRCA2 和 TP53。
