Boyd J, Rubin S C
Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia 19104, USA.
Gynecol Oncol. 1997 Feb;64(2):196-206. doi: 10.1006/gyno.1996.4572.
Epidemiologic data support the existence of two discrete manifestations of hereditary ovarian carcinoma: the breast and ovarian cancer syndrome and the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. Genetic linkage analyses reveal that the majority of breast and ovarian cancer families are linked to the BRCA1 gene, while some cases of hereditary ovarian cancer are also apparent in breast cancer families linked to the BRCA2 gene. The majority of HNPCC families are linked to one of four genes encoding a family of DNA mismatch repair proteins. Molecular analyses demonstrate that genetic screening for germline transmission of a defective allele of one or another of these genes is now possible for high-risk individuals. The ethical, legal, and social implications of this type of analysis are multiple and complex, and genetic counseling requires a thorough understanding of these issues and a cautious approach to most effectively meet the special needs of this patient population. Increased medical surveillance and prophylactic oophorectomy are among the management options that may be appropriate for some genetically predisposed, asymptomatic women. Further research is needed regarding the most effective use of this genetic information in formulating counseling and clinical management strategies.
乳腺癌和卵巢癌综合征以及遗传性非息肉病性结直肠癌（HNPCC）综合征。基因连锁分析表明，大多数乳腺癌和卵巢癌家族与BRCA1基因相关，而在与BRCA2基因相关的乳腺癌家族中也有一些遗传性卵巢癌病例。大多数HNPCC家族与编码DNA错配修复蛋白家族的四个基因之一相关。分子分析表明，现在可以对高危个体进行这些基因中某一个缺陷等位基因的种系传递基因筛查。这类分析的伦理、法律和社会影响是多方面且复杂的，遗传咨询需要透彻理解这些问题并采取谨慎的方法，以最有效地满足这一患者群体的特殊需求。加强医学监测和预防性卵巢切除术是一些有遗传易感性的无症状女性可能适用的管理选择。关于如何最有效地利用这些遗传信息来制定咨询和临床管理策略，还需要进一步研究。
