Shirley V. Hodgson, William D. Foulkes, Charis Eng, Eamonn's A Practical Guide to Human Cancer Genetics PDF

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 entire and up to date consultant to the prognosis, medical beneficial properties and administration of inherited issues conferring melanoma susceptibility. it truly is absolutely up to date with a lot molecular, screening and administration details. It covers hazard research and genetic counselling for people with a relations historical past of melanoma. It additionally discusses predictive trying out and the agency 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 information in a realistic layout for geneticists and clinicians in all disciplines.

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Extra resources for A Practical Guide to Human Cancer Genetics

Example text

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)). The RB1 gene spans 200 kb in 13q14 (Friend et al.

Choi NW, Schuman IM, Gullen WH. Epidemiology of primary central nervous system neoplasms. II. Case–control study. Am J Epidemiol. 1970;91:467–85. Craig HD, Gunel M, Cepeda O, et al. 2–27. Hum Mol Genet. 1998;7(12):1851–8. Custodio G, Taques GR, Figueiredo BC, Gugelmin ES, Oliveira Figueiredo MM, Watanabe F, Pontarolo R, Lalli E, Torres LF. Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. PLoS One. 2011;6(3):e18015. de Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N, Lees M, Balu L, Lachassinne E, Petros A, Mollet J, Wilson LC, Munnich A, Brugière L, Delattre O, Vekemans M, Etchevers H, Lyonnet S, Janoueix-Lerosey I, Amiel J.

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. Am J Hum Genet. 2004;74(4):761–4.

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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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