Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel–Lindau gene in the ccRCC

Background The von Hippel–Lindau disease is an autosomal dominant syndrome associated with tumour formation in various tissues, such as retina, central nervous system, kidney, and adrenal glands. VHL gene deletion or mutations support the development of various cancers. Unclassified VHL variants als...

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Bibliographic Details
Published in:	British journal of cancer 2022-11, Vol.127 (11), p.1954-1962
Main Authors:	Chesnel, Franck, Jullion, Emmanuelle, Delalande, Olivier, Couturier, Anne, Alusse, Adrien, Le Goff, Xavier, Lenglet, Marion, Gardie, Betty, Abadie, Caroline, Arlot-Bonnemains, Yannick
Format:	Article
Language:	English
Subjects:	631/45/612/1243 631/67/395 631/80/84 Adrenal glands Biomedical and Life Sciences Biomedicine Cancer Research Carcinoma, Renal Cell - genetics Central nervous system Drug Resistance Epidemiology Gene deletion Genetics Humans Kidney Neoplasms - genetics Life Sciences Missense mutation Molecular Medicine Mutation Mutation, Missense Oncology Proline - genetics PvHL protein Retina Serine Tumor suppressor genes Tumors VHL protein Von Hippel-Lindau disease Von Hippel-Lindau Tumor Suppressor Protein - genetics
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