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A small proportion of malignancies have a clear genetic aetiology resulting from mutations in genes inherited usually as an autosomal dominant trait. Risk assessment and genetic counselling around genetic testing and reproductive decision-making should be undertaken in a regional genetic service. If a mutation is identified within an individual, it should be confirmed in another affected member of the family, if possible. A predictive genetic test is then available for unaffected adult members of the family. Adoption or conception using donor gametes may be alternatives for families with genetic conditions who wish to avoid prenatal diagnosis. The issue of the appropriateness of prenatal diagnosis and of preimplantation genetic diagnosis (PGD) for inherited conditions with an onset in adulthood is controversial. PGD may be more acceptable than prenatal diagnosis as it obviates the need for termination of an affected pregnancy.
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