Cancer Genetics, Department of Genetics, University of Pretoria.
S Afr Med J. 2010 Jan 29;100(2):113-7. doi: 10.7196/samj.3235.
Women who carry germline mutations in the breast-ovarian cancer susceptibility genes, BRCA1 and BRCA2, are at very high risk of developing breast and/or ovarian cancer. Both genes are tumour suppressor genes that protect all cells from deregulation, and there are reports of their involvement in other cancers that vary and seem to depend on the population investigated. It is therefore important to investigate the other associated cancers in different populations to assist with risk assessments.
To assess the cancer risk profile in BRCA-mutation-positive and negative South African breast-ovarian cancer families, mainly of Caucasian origin.
Descriptive study in which the prevalence of all cancers in the pedigrees of BRCA1- and BRCA2-mutation-positive groups and a group of families without mutations in either gene were compared with the general population.
As expected, female breast and ovarian cancer was significantly increased in all three groups. Furthermore, male breast cancer was significantly elevated in the BRCA2-positive and BRCA-negative groups. Stomach cancer prevalence was significantly elevated in the BRCA2-positive families compared with the general population.
These results can be applied in estimation of cancer risks and may contribute to more comprehensive counselling of mutation-positive Caucasian breast and/or ovarian cancer families.
携带乳腺癌-卵巢癌易感基因 BRCA1 和 BRCA2 种系突变的女性，罹患乳腺癌和/或卵巢癌的风险极高。这两个基因都是肿瘤抑制基因，能保护所有细胞免受失调的影响，有报道称它们还与其他癌症有关，且似乎取决于所研究的人群。因此，有必要在不同人群中研究其他相关癌症，以协助进行风险评估。
评估 BRCA 基因突变阳性和阴性的南非乳腺癌-卵巢癌家系的癌症风险特征，这些家系主要来自白种人群。
描述性研究，将 BRCA1-和 BRCA2-基因突变阳性组及一组两个基因均未发生突变的家系的所有癌症患病率与普通人群进行比较。
正如预期的那样，三组人群中女性乳腺癌和卵巢癌的发病率显著升高。此外，BRCA2 阳性组和 BRCA 阴性组男性乳腺癌的发病率也显著升高。BRCA2 阳性家系的胃癌患病率明显高于普通人群。
这些结果可用于癌症风险的估计，并有助于对 BRCA 基因突变阳性的白种人乳腺癌和/或卵巢癌家系进行更全面的咨询。
