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J BUON. 2009 Sep;14 Suppl 1:S187-92.

Hereditary cancer predisposition syndromes and preimplantation genetic diagnosis: where are we now?

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  • 1Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research NCSR Demokritos, Athens, Greece.


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.

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