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- W2785385287 abstract "Beckwith Wiedemann syndrome (BWS) and Birt-Hogg-Dube syndrome (BHD) are two examples of genetic conditions that are associated with an increased risk of renal neoplasia (Wilms tumour and renal cell carcinoma (RCC) respectively). BWS is a model imprinting disorder characterised by overgrowth, developmental defects, predisposition to embryonal tumours and results from disordered expression of imprinted genes on chromosome 11p15.5. There is an association between the use of assisted reproductive technologies (ART) and BWS. BHD is an autosomal dominantly inherited condition characterised by cutaneous fibrofolliculomas, lung cysts predisposing to spontaneous pneumothorax and an increased lifetime risk of RCC and is caused by germline mutations in the FLCN gene. Both BWS and BHD show phenotypic variation in their manifestation. The clinical and molecular genetic investigations described in this thesis aimed to uncover factors influencing variation in phenotypic expression in these two conditions. Conclusions: Phenotypic variation in BWS can result from locus heterogeneity, epigenetic and environmental modifiers. Phenotypic variation in BHD may reflect allelic heterogeneity and the presence of genetic modifiers." @default.
- W2785385287 created "2018-02-23" @default.
- W2785385287 creator A5033933023 @default.
- W2785385287 date "2018-07-01" @default.
- W2785385287 modified "2023-09-24" @default.
- W2785385287 title "The clinical and molecular genetic investigation of genetic conditions predisposing to kidney cancers" @default.
- W2785385287 hasPublicationYear "2018" @default.
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