Tsukamoto K, Emi M, Nakamura Y
Department of Molecular Biology, Nippon Medical School.
Nihon Rinsho. 1996 Dec;54(12):3389-97.
The etiology of breast cancer involves a complex interplay of exogenous and endogenous factors, including genetic factors. The identification of oncogenes, tumor suppressor genes and human mismatch repair genes has helped to refine the characterization of breast carcinogenesis. The major types of genetic alterations in breast cancer are amplification of protooncogenes (ERBB2 and MYC) and DNA from chromosome band 11q13; mutation of p53; and loss of heterozygosity on 1p, 3p, 8p, 11p, 13q, 16q, 17p, 17q, 18q. The latter may imply inactivations of tumor suppressor genes. Recently, two distinct familial breast cancer susceptibility genes, BRCA1 and BRCA2, have been isolated. These findings enable to use these genes for genetic diagnosis in clinical oncology.
乳腺癌的病因涉及外源性和内源性因素的复杂相互作用，包括遗传因素。癌基因、肿瘤抑制基因和人类错配修复基因的鉴定有助于完善对乳腺癌发生机制的描述。乳腺癌中主要的基因改变类型包括原癌基因（ERBB2和MYC）及11q13染色体带的DNA扩增；p53突变；以及1p、3p、8p、11p、13q、16q、17p、17q、18q的杂合性缺失。后者可能意味着肿瘤抑制基因的失活。最近，已分离出两种不同的家族性乳腺癌易感基因BRCA1和BRCA2。这些发现使得能够在临床肿瘤学中利用这些基因进行基因诊断。
