Sobol H, Bignon Y J, Eisinger F, Birnbaum D, Fervers B
Ann Chir. 1994;48(4):303-8.
Breast carcinoma is the commonest cancer in women. Segregation analyses support the existence of a major susceptibility gene with a dominant pattern of inheritance in 4 to 10% of cases. Three genes involved in the genetic predisposition to breast tumors have recently been identified: BRCA-1 associated with early onset familial breast cancer and breast/ovarian carcinoma syndrome, p53 associated with Li-Fraumeni syndrome, and the androgen receptor gene in male breast cancer with Reinfenstein syndrome. A better understanding of inherited contribution may have important implications for screening individuals at high-risk in families.
乳腺癌是女性中最常见的癌症。分离分析支持在4%至10%的病例中存在一种具有显性遗传模式的主要易感基因。最近已鉴定出三个与乳腺肿瘤遗传易感性相关的基因：与早发性家族性乳腺癌和乳腺/卵巢癌综合征相关的BRCA-1、与李-佛美尼综合征相关的p53以及与赖因费斯坦综合征相关的男性乳腺癌中的雄激素受体基因。更好地了解遗传因素可能对筛查家族中的高危个体具有重要意义。
