Daly Mary B
Division of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA.
J Genet Couns. 2009 Feb;18(1):42-8. doi: 10.1007/s10897-008-9183-y. Epub 2008 Aug 8.
Recent advances in genetics have identified several genes associated with inherited susceptibility to breast and ovarian cancer and have led to the commercial availability of mutation analyses. Although the majority of cancers associated with BRCA1/2 mutations are seen in women, men with BRCA1/2 mutations are at increased risk for male breast cancer, prostate cancer, pancreatic cancer and melanoma. Limited data available on the response of men in BRCA1/2 families suggest that the majority do not pursue genetic counseling, thus they may forgo the opportunity to improve health practices and to pass on valuable cancer risk information to offspring. The patterns of relationships of men within the family and society can pose challenges to their recognition of genetic health threats and the need for preventive interventions. Genetic counselors are in a position to inform at-risk males of their genetic risk, and to help them explore their personal health options.
遗传学领域的最新进展已鉴定出多个与遗传性乳腺癌和卵巢癌易感性相关的基因,并使得突变分析能够商业化获取。虽然与BRCA1/2突变相关的大多数癌症发生在女性中,但携带BRCA1/2突变的男性患男性乳腺癌、前列腺癌、胰腺癌和黑色素瘤的风险增加。关于BRCA1/2家族中男性反应的现有数据有限,这表明大多数男性不寻求遗传咨询,因此他们可能会错过改善健康习惯以及将重要的癌症风险信息传递给后代的机会。家庭和社会中男性的关系模式可能对他们认识遗传健康威胁以及预防性干预的必要性构成挑战。遗传咨询师能够告知高危男性其遗传风险,并帮助他们探索个人健康选择。