By Shirley V. Hodgson, William D. Foulkes, Charis Eng, Eamonn R. Maher (auth.)
This is a finished and updated consultant to the prognosis, scientific beneficial properties and administration of inherited problems conferring melanoma susceptibility. it's absolutely up to date with a lot molecular, screening and administration info. It covers danger research and genetic counselling for people with a family members heritage of melanoma. It additionally discusses predictive trying 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 structure for geneticists and clinicians in all disciplines.
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1994;9:1321–6. Labauge P, Krivosic V, Denier C, Tournier-Lasserve E, Gaudric A. Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. Arch Ophthalmol. 2006;124(6):885–6. Lewis RA, Cohen MH, Wise GN. Cavernous hemangioma of the retina and optic disc. Br J Ophthalmol. 1975;59:422–4. Lewis RA, Riccardi VM, Gerson LP, Whitford R, Axelson KA. Von Recklinghausen neurofibromatosis: II. Incidence of optic-nerve gliomata. Ophthalmology. 1984;91:929–35.
3). The retinoblastoma gene was initially assigned to chromosome 13 band q14 by reports of children with retinoblastoma and interstitial deletions of chromosome 13. About 3 % of children with retinoblastoma will have a cytogenetically visible chromosome 13 deletion or translocation. Retinoblastoma cases with constitutional chromosome deletion may have associated mental retardation, and most have reduced serum levels of esterase D (the gene for which maps close to the retinoblastoma gene (RB1)).
1989;6:319–29. Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 1971;68:820–3. Knudson AG, Strong LC. Mutation and cancer: neuroblastoma and pheochromocytoma. Am J Hum Genet. 1972;24:514–32. Krutilkova V, Trkova M, Fleitz J, Gregor V, Novotna K, Krepelova A, Sumerauer D, Kodet R, Siruckova S, Plevova P, Bendova S, Hedvicakova P, Foreman NK, Sedlacek Z. Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.