Yang Qifeng, Yoshimura Goro, Nakamura Misa, Nakamura Yasushi, Suzuma Takaomi, Umemura Teiji, Mori Ichiro, Sakurai Takeo, Kakudo Kennichi
Department of General Surgery, Qilu Hospital, Shandong University, Ji'nan, Shandong Province, P.R. China.
Oncol Rep. 2002 Nov-Dec;9(6):1329-33.
Breast cancer occurs in hereditary and sporadic form. Breast cancer susceptibility gene (BRCA1) is known to be responsible for hereditary breast cancer. BRCA1 mutations are rare in sporadic cancers, but loss of BRCA1 resulting from reduced expression or incorrect subcellular localization is postulated to be important in non-familial breast cancers. More than 300 germline mutations have been identified so far in patients with familial breast and/or ovarian cancer, however, only a few somatic mutations have been identified in sporadic breast cancer. The decreased expression of BRCA1 in sporadic breast cancer is thought to be caused by other mechanisms, such as CpG methylation. BRCA1 expression may play an important role in the pathogenesis and prognosis of sporadic breast carcinoma.
乳腺癌以遗传性和散发性两种形式出现。已知乳腺癌易感基因（BRCA1）与遗传性乳腺癌有关。BRCA1突变在散发性癌症中较为罕见，但据推测，由于表达降低或亚细胞定位错误导致的BRCA1缺失在非家族性乳腺癌中很重要。到目前为止，在家族性乳腺癌和/或卵巢癌患者中已鉴定出300多种种系突变，然而，在散发性乳腺癌中仅鉴定出少数体细胞突变。散发性乳腺癌中BRCA1表达降低被认为是由其他机制引起的，如CpG甲基化。BRCA1表达可能在散发性乳腺癌的发病机制和预后中起重要作用。
