New PDF release: A Practical Guide to Human Cancer Genetics

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 up to date advisor to the prognosis, medical good points and administration of inherited issues conferring melanoma susceptibility. it truly is totally up-to-date with a lot molecular, screening and administration info. It covers hazard research and genetic counselling for people with a family members background of melanoma. It additionally discusses predictive checking out and the supplier of the melanoma genetics provider. there's information regarding the genes inflicting Mendelian melanoma predisposing stipulations and their mechanism of motion. It goals to supply such info in a pragmatic layout for geneticists and clinicians in all disciplines.

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Nat Genet. 2013;45:295–8. Tabori U, Shlien A, Baskin B, Levitt S, Ray P, Alon N, Hawkins C, Bouffet E, Pienkowska M, Lafay-Cousin L, Gozali A, Zhukova N, Shane L, Gonzalez I, Finlay J, Malkin D. TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. J Clin Oncol. 2010;28(12):1995–2001. Tachibana I, Smith JS, Sato K, Hosek SM, Kimmel DW, Jenkins RB. Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma. Am J Med Genet.

Friend SH, Bernards R, Rogelj S, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986;323:643–6. References 23 Harbour JW. The genetics of uveal melanoma: an emerging framework for targeted therapy. Pigment Cell Melanoma Res. 2012;25(2):171–81. Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science. 2010;330(6009):1410–3.

Survivors of bilateral retinoblastoma (and unilateral retinoblastoma in those with germline retinoblastoma gene mutations) are at high risk of osteosarcoma in adolescence and of the occurrence of other cancers (see above). Retinal Astrocytic Hamartoma This benign, nonprogressive tumor is most commonly seen in patients with tuberous sclerosis and occurs in about 50 % of patients with this disorder. Retinal astrocytic hamartomas have also been described rarely in neurofibromatosis type 1 and type 2 (see p.

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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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