Konstantopoulou I, Pertesi M, Fostira F, Grivas A, Yannoukakos D
Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research NCSR Demokritos, Athens, Greece.
J BUON. 2009 Sep;14 Suppl 1:S187-92.
Hereditary cancer predisposition syndromes have been model diseases in order to understand carcinogenesis in many different organs such as colon, breast, ovaries, stomach and others. Better understanding and follow up of these diseases have led to the increasing acceptance of cancer genetic testing and the improving survival of young patients with cancer. Once the mutation is identified in the gene, patients and their relatives have the option of preimplantation genetic diagnosis (PGD) in order to select embryos without familial cancer-predisposing mutations. This procedure has already been performed in several syndromes, including the common syndromes of genetic predisposition to colon and breast cancer. Despite the numerous ethical objections and legal arguments, PGD for adult-onset cancers is today a reality and couples with an inherited predisposing mutation deserve the same respect, support and right to choose if their child will be born having an extremely high risk for cancer development as in the case of other life-threatening diseases for which prenatal screening has become a standard.
遗传性癌症易感性综合征一直是用于理解多种不同器官（如结肠、乳腺、卵巢、胃等）致癌机制的典型疾病。对这些疾病的深入了解和跟踪随访使得癌症基因检测越来越被接受，同时也提高了年轻癌症患者的生存率。一旦在基因中鉴定出突变，患者及其亲属可以选择胚胎植入前基因诊断（PGD），以选择没有家族性癌症易感突变的胚胎。这一程序已经在多种综合征中实施，包括常见的结肠和乳腺癌遗传易感性综合征。尽管存在众多伦理异议和法律争议，但针对成年期发病癌症的PGD如今已成为现实，对于携带遗传性易感突变的夫妇而言，就如同其他已将产前筛查作为标准的危及生命的疾病一样，如果他们的孩子出生后患癌症的风险极高，他们理应得到同样的尊重、支持和选择权。
