BRCA1 and BRCA2 in breast cancer.
BRCA1 and BRCA2 in breast cancer.
复制标题
乳腺癌中的 BRCA1 和 BRCA2。
DOI：
10.1023/a:1006189906896
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发表时间：
1999
影响因子：
3.8
通讯作者：
Lippman,ME
中科院分区：
文献类型：
--
作者：
Yang,X;Lippman,ME
乳腺癌是影响妇女的最常见的严重恶性肿瘤之一，以遗传和散发形式发生。遗传性乳腺癌占所有病例的5-10%，与散发性乳腺癌相比具有一些独特的临床特征。最近发现的基因BRCA 1和BRCA 2似乎是美国和欧洲人群中大多数遗传性乳腺癌的原因。这两个基因已经被定位和分离，但其蛋白质的确切功能尚不清楚。在BRCA 1和BRCA 2基因所在的17 q21和13 q12-q13区域检测到洛缺失，表明BRCA 1和BRCA 2是肿瘤抑制基因。BRCA 1和BRCA 2中已确定的生殖系突变名单仍在增加，突变携带者一生中患乳腺癌和卵巢癌的风险很大。然而，BRCA 1和BRCA 2是否在散发性乳腺癌中发挥类似的重要作用仍不确定。本文综述了BRCA 1/BRCA 2基因和蛋白的结构、突变频率、在遗传性和散发性乳腺癌中的作用以及在转录调控和DNA修复中的功能。
Breast cancer, one of the most common serious malignancies affecting women, occurs in hereditary and sporadic forms. Hereditary breast cancer accounts for 5–10% of all cases and has some distinctive clinical features compared with sporadic breast cancer. The recently identified genes BRCA1 and BRCA2 appear to account for the majority of hereditary breast cancer in US and European populations. Both of these genes have already been localized and isolate; however, the exact functions of their proteins are not clear yet. The detection of LOH in the 17q21 and 13q12-q13 regions, where the BRCA1 and BRCA2 genes are located, indicates that BRCA1 and BRCA2 act as tumor suppressor genes. The list of identified germline mutations in BRCA1 and BRCA2 is still growing, and mutation carriers have a substantial lifetime risk of both breast and ovarian cancer. However, it is still undetermined whether BRCA1 and BRCA2 play similar important roles in sporadic breast cancer. This paper reviews the current advances in BRCA1/BRCA2 research: the structure of their genes and proteins, their mutation frequencies, their possible roles in both hereditary and sporadic breast cancers, and their functions in transcriptional regulation and DNA repair.