Read e-book online A Practical Guide to Human Cancer Genetics PDF

By Shirley Hodgson

ISBN-10: 0511349513

ISBN-13: 9780511349515

ISBN-10: 052168563X

ISBN-13: 9780521685634

This can be a accomplished and updated consultant to the prognosis, medical good points and administration of inherited problems conferring melanoma susceptibility. This new version is absolutely up to date with even more molecular, screening and administration details. It covers chance research and genetic counseling for people with a relations historical past of melanoma, and likewise discusses predictive checking out and the association of the melanoma genetics carrier. It goals to supply such information in a pragmatic structure for geneticists and clinicians in all disciplines. This publication differs from others within the box in that it's a sensible guide for simple reference for a large medical viewers. there's a huge reference record for extra info, in addition to information regarding the genes inflicting mendelian melanoma predisposing and their mechanism of motion.

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1996a). , 2002). It is unclear, however, whether parathyroid carcinoma is a true component cancer of MEN 1 as well. , 1992). , 2003). , 2003). Those at risk for parathyroid hyperplasia and/or adenoma should undergo routine clinical surveillance. Management for parathyroid disease for MEN 2 is discussed in that section below. 37 Endocrine system Pituitary tumours Tumours of the pituitary gland rarely complicate genetic conditions other than MEN 1 (see section below). , 1996b), but there are several reports in the literature of familial pituitary adenomas without clinical evidence of MEN 1.

The mean age at diagnosis is significantly younger in familial than in sporadic cases (42 and 56 years respectively) and inheritance can be autosomal dominant with incomplete penetrance. Intraocular melanoma may be associated with familial atypical molemelanoma syndrome (p. , 1995). , 2003). Meningioma Optic nerve meningioma is an uncommon tumour that may present at any age but predominantly occurs in middle-aged women. Most tumours are unilateral, but a small proportion of patients have bilateral involvement.

2002). Medulloblastoma may also occur in patients with homozygous BRCA2 mutations (Fanconi Anaemia Type D1, see p. , 2004). Meningioma The most common benign brain tumour, meningioma, accounts for about 15 per cent of all primary brain tumours. The frequency of meningioma increases with advancing age and it is more common in women. Multiple or familial meningioma is associated with (i) NF2, (ii) pure familial meningioma and (iii) constitutional chromosome 22 rearrangements. Meningioma also occurs with increased frequency in Werner syndrome and Gorlin syndrome (see Part three).

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A Practical Guide to Human Cancer Genetics by Shirley Hodgson

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