Ford D, Easton D F
Section of Epidemiology, Institute of Cancer Research, Belmont, Surrey, UK.
Br J Cancer. 1995 Oct;72(4):805-12. doi: 10.1038/bjc.1995.417.
A number of genes are known to be involved in inherited susceptibility to breast and/or ovarian cancer. In the context of high-risk families the most important genes are BRCA1 on chromosome 17q, which is associated with a high penetrance of both breast and ovarian cancer, and BRCA2 on chromosome 13q, which causes a high risk of breast cancer but a lower risk of ovarian cancer. Other high-risk cancer genes that confer increased risks of breast or ovarian cancer in addition to other cancers include the hereditary non-polyposis colorectal cancer genes and the TP53 gene, which causes breast cancer as part of the Li-Fraumeni syndrome. The predisposing mutations in these genes are relatively rare in the population. More common genes which are associated with an increased, but lower, risk of breast cancer are the ataxiatelangiectasia gene and the HRAS1 gene. This paper reviews recent progress in mapping and cloning of these susceptibility genes, and provides estimates of the cancer risks associated with each gene and the frequency of predisposing mutations.
已知许多基因与遗传性乳腺癌和/或卵巢癌易感性有关。在高危家族中，最重要的基因是位于17号染色体q臂上的BRCA1，它与乳腺癌和卵巢癌的高外显率相关；以及位于13号染色体q臂上的BRCA2，它会导致乳腺癌的高风险，但卵巢癌的风险较低。除了其他癌症外，还会增加乳腺癌或卵巢癌风险的其他高危癌症基因包括遗传性非息肉病性结直肠癌基因和TP53基因，后者作为李-佛美尼综合征的一部分会导致乳腺癌。这些基因中的易感突变在人群中相对罕见。与乳腺癌风险增加但程度较低相关的更常见基因是共济失调毛细血管扩张症基因和HRAS1基因。本文综述了这些易感基因定位和克隆的最新进展，并提供了与每个基因相关的癌症风险估计以及易感突变的频率。
