By Shirley V. Hodgson, William D. Foulkes, Charis Eng, Eamonn R. Maher (auth.)

ISBN-10: 1447123743

ISBN-13: 9781447123743

ISBN-10: 1447123751

ISBN-13: 9781447123750

This is a accomplished and updated consultant to the analysis, scientific beneficial properties and administration of inherited issues conferring melanoma susceptibility. it really is absolutely up to date with a lot molecular, screening and administration info. It covers danger research and genetic counselling for people with a kinfolk heritage of melanoma. It additionally discusses predictive trying out and the enterprise of the melanoma genetics carrier. there's information regarding the genes inflicting Mendelian melanoma predisposing stipulations and their mechanism of motion. It goals to supply such information in a realistic structure for geneticists and clinicians in all disciplines.

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Additional resources for A Practical Guide to Human Cancer Genetics

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Although classically associated with asbestos exposure, familial clusters of mesothelioma may occur suggesting that genetic factors may influence susceptibility (Carbone et al. 2007). Testa et al. (2011) demonstrated that germline mutations in BAP1 predisposed to mesothelioma, uveal melanoma (see p. 21), and possibly other cancer types, and it has been suggested that the occurrence of mesothelioma and melanoma in BAP1 mutation carriers may depend on exposure to asbestosis and sunlight. The relative frequency of peritoneal to pleural mesothelioma appears to increase in inherited cases compared to sporadic cases.

2002;31(3):306–10. Thuwe I, Lundstrom B, Walinder J. Familial brain tumor. Lancet. 1979;i:504. Torres CF, Korones DN, Pilcher W. Multiple ependymomas in a patient with Turcot’s syndrome. Med Pediatr Oncol. 1997;28:59–61. Tos M, Thomsen J. Epidemiology of acoustic neuromas. J Laryngol Otol. 1984;98:685–92. Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

New tumors occurred in 11 % of children studied by Salmonsen et al. (1979). Traditionally, all children with retinoblastoma are followed up with regular retinal examinations under general anesthesia. However, the application of DNA Optic Glioma 19 techniques to identify RB1 gene mutations in tumors and constitutional DNA enables follow-up to be restricted to those shown to have germline RB1 mutations. This not only enhances management of at-risk relatives but is also a cost-effective strategy (Noorani et al.

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A Practical Guide to Human Cancer Genetics by Shirley V. Hodgson, William D. Foulkes, Charis Eng, Eamonn R. Maher (auth.)


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