New PDF release: A Practical Guide to Human Cancer Genetics

By Shirley Hodgson

ISBN-10: 0511349513

ISBN-13: 9780511349515

ISBN-10: 052168563X

ISBN-13: 9780521685634

It is a complete and updated advisor to the analysis, medical gains and administration of inherited problems conferring melanoma susceptibility. This re-creation is absolutely up to date with even more molecular, screening and administration details. It covers chance research and genetic counseling for people with a relatives heritage of melanoma, and likewise discusses predictive trying out and the association of the melanoma genetics provider. It goals to supply such info in a realistic structure for geneticists and clinicians in all disciplines. This booklet differs from others within the box in that it's a functional guide for simple reference for a large scientific viewers. there's a huge reference record for extra information, in addition to information regarding the genes inflicting mendelian melanoma predisposing and their mechanism of motion.

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Extra resources for A Practical Guide to Human Cancer Genetics

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Hemangioblastoma is a benign tumour but may recur if surgical removal is not complete. In such cases the possibility of a new primary (and hence a diagnosis of VHL disease) should also be considered. The risk of VHL disease is highest in younger patients: the mean ages at diagnosis of cerebellar haemangioblastoma in this disease and in non-familial cases are 29 and 48 years, respectively. All patients with apparently sporadic haemangioblastomas should be screened for subclinical evidence of VHL disease.

Individuals with genetic retinoblastoma (germline mutation) are at increased risk for second tumours, but children with non-genetic tumours are not. g. radiation). Draper et al. 4 per cent for all tumours and 6 per cent for osteosarcoma. 7 per cent respectively, and thus patients with genetic retinoblastoma may be more sensitive to radiation-induced oncogenesis. The most common site of osteosarcoma outside the radiation field is in the femur, and genetic retinoblastoma patients are at a 200– 500-fold increased risk of this complication.

Van Meyel et al. (1994) investigated 16 kindreds with familial glioma for evidence for germline mutations in exons 5–9 of the TP53 gene and exon 24 of the NF1 gene. No mutations were identified. A study from the Mayo Clinic of 15 brain cancer patients who had a family history of brain tumours found that one had a germline TP53 mutation, and another had a germline hemizygous deletion of the CDKN2A/ARF region (see below). , 2000). , 2000). , 2001). The situation is complicated, because p14ARF is formed from the products of exon 1␤ and exon 2 of CDKN2A, whereas p16 is formed from exon 1␣ and exon 2 of CDKN2A; nevertheless, the reading frames are different and have no amino acid homology, although both are cell cycle regulators.

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A Practical Guide to Human Cancer Genetics by Shirley Hodgson

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