Andersen T I
Department of Genetics, Institute for Cancer Research, Norwegian Radium Hospital, Oslo, Norway.
Acta Oncol. 1996;35(4):407-10. doi: 10.3109/02841869609109913.
Approximately 20% of breast cancer patients have a family history of the disease, and in one-fourth of these cases breast cancer appears to be inherited as an autosomally dominant trait. Five genes and gene regions involved in breast cancer susceptibility have been uncovered. Germ-line mutations in the recently cloned BRCA1 gene at 17q21 is considered to be responsible for the disease in a majority of the breast-ovarian cancer families and in 40-45% of the site-specific breast cancer families, but appears not to be involved in families with both male and female breast cancer cases. The BRCA2 locus at 13q12-q13 appears to be involved in 40-45% of the site-specific breast cancer families, and in most of the families with affected males. The gene located in this region, however, does not seem to confer susceptibility to ovarian cancer. The TP53 gene is involved in breast cancer development in the Li-Fraumeni syndrome and Li-Fraumeni syndrom-like families, whereas germ-line mutations in the androgen receptor (AR) gene is present in a subset of male breast cancers. Furthermore, females who are obligate carriers of ataxia telangiectasia (AT) have a 4-12 times relative risk of developing breast cancer as compared with the general female population, indicating that germ-line mutations in AT also confer susceptibility to breast cancer.
约20%的乳腺癌患者有该病的家族病史，其中四分之一的病例中，乳腺癌似乎作为常染色体显性性状遗传。已发现五个与乳腺癌易感性相关的基因和基因区域。位于17q21的最近克隆的BRCA1基因的种系突变被认为是大多数乳腺-卵巢癌家族以及40%-45%的特定部位乳腺癌家族中该病的病因，但在男性和女性均患乳腺癌的家族中似乎不涉及。位于13q12-q13的BRCA2位点似乎与40%-45%的特定部位乳腺癌家族以及大多数有男性患者的家族有关。然而，该区域的基因似乎不会使患卵巢癌的易感性增加。TP53基因在李-弗劳梅尼综合征和类李-弗劳梅尼综合征家族的乳腺癌发生过程中起作用，而雄激素受体（AR）基因的种系突变存在于一部分男性乳腺癌中。此外，共济失调毛细血管扩张症（AT）的 obligate携带者女性患乳腺癌的相对风险是普通女性人群的4至12倍，这表明AT的种系突变也会使人易患乳腺癌。
