Attitudes and Practices of Genetic Counselors in Providing Predictive Testing to Minors at Risk for Li-fraumeni Syndrome
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منابع مشابه
Does PTEN gene mutation play any role in Li-Fraumeni syndrome?
Background: Li-Fraumeni syndrome (LFS) is one of the most serious hereditary cancer syndromes with a high risk of malignancy in childhood. This syndrome is an autosomal dominant cancer predisposing syndrome due to a germline mutation in the TP53 tumor suppressor gene. Methods: In this study, a representative family case of Li-Fraumeni syndrome is described. The proband of this family ...
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BACKGROUND Li-Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by TP53 germline mutations. Predictive testing of at-risk family members is only offered after a complex genetic counselling process. Recently the clinical implementation of array comparative genomic hybridisation (CGH) has revolutionised the diagnosis of patients with syndromi...
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