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癌症基因检测与辅助生殖。

Cancer genetic testing and assisted reproduction.

作者信息

Offit Kenneth, Kohut Kelly, Clagett Bartholt, Wadsworth Eve A, Lafaro Kelly J, Cummings Shelly, White Melody, Sagi Michal, Bernstein Donna, Davis Jessica G

机构信息

Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA.

出版信息

J Clin Oncol. 2006 Oct 10;24(29):4775-82. doi: 10.1200/JCO.2006.06.6100. Epub 2006 Jul 13.

Abstract

PURPOSE

Because of increasing uptake of cancer genetic testing and the improving survival of young patients with cancer, health care practitioners including oncologists will increasingly be asked about options for assisted reproduction by members of families affected by hereditary cancer syndromes. Among these reproductive options, preimplantation genetic diagnosis (PGD) offers the opportunity to select embryos without familial cancer-predisposing mutations.

METHODS

A review of the published literature supplemented by a survey of PGD centers in the United States.

RESULTS

Prenatal diagnosis and/or embryo selection after genetic testing has already been performed in the context of more than a dozen familial cancer syndromes, including the common syndromes of genetic predisposition to colon and breast cancer.

CONCLUSION

While constituting new reproductive options for families affected by cancer, the medical indications and ethical acceptance of assisted reproductive technologies for adult-onset cancer predisposition syndromes remain to be defined. Continued discussion of the role of PGD in the reproductive setting is needed to inform the responsible use of these technologies to decrease the burden of heritable cancers.

摘要

目的

由于癌症基因检测的应用日益广泛,以及年轻癌症患者生存率的提高,包括肿瘤学家在内的医疗从业者将越来越多地被受遗传性癌症综合征影响的家庭成员问及辅助生殖的选择。在这些生殖选择中,植入前基因诊断(PGD)提供了选择没有家族性癌症易感突变胚胎的机会。

方法

通过对美国PGD中心的调查对已发表的文献进行综述。

结果

在包括常见的结肠癌和乳腺癌遗传易感性综合征在内的十几种家族性癌症综合征的背景下,已经在基因检测后进行了产前诊断和/或胚胎选择。

结论

虽然为受癌症影响的家庭构成了新的生殖选择,但成人发病的癌症易感综合征辅助生殖技术的医学指征和伦理接受度仍有待确定。需要继续讨论PGD在生殖环境中的作用,以便明智地使用这些技术,减轻遗传性癌症的负担。

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