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Additional info for A Practical Guide to Human Cancer Genetics
In a molecular genetic survey of 121 cerebral cavernous haemangioma probands with familial and/or multiple lesions, Cave-Riant et al. (2002) found germline KRIT1 mutations in 43 per cent. , 1998), and these are estimated to account for about 20 and 40 per cent of families, respectively. Characterisation of the CCM2 gene was reported by Liquori et al. (2003). 16 Genetics of human cancers by site of origin Meningeal haemangioma and facial naevus ﬂammeus constitute the Sturge– Weber syndrome, and cerebral vascular lesions occur in Rendu–Osler–Weber syndrome.
Schwannomas occur in the Carney complex (see part three), most commonly in the upper gastrointestinal tract and sympathetic nerve chains. Neuroblastoma This tumour of postganglionic sympathetic neurons is the most common solid tumour in children. Most cases are sporadic; familial cases (in which predisposition to neuroblastoma is inherited as an autosomal dominant trait) account for less than 1 per cent of the total. However, in a statistical analysis of the age at onset of neuroblastoma, Knudson and Strong (1972) estimated that 22 per cent of neuroblastomas could result from a germinal mutation and follow a “singlehit” mutation model, as in inherited retinoblastoma (Knudson, 1971).
1995b). , 1996a). , 2001). 36 Genetics of human cancers by site of origin Benign neoplasias of the thyroid Benign thyroid neoplasias such as follicular adenomas, multinodular goitres and hamartomas are components of CS (see below). Due to the risk of recurrence and the risk of thyroid cancer in CS patients or in those with a proven germline PTEN mutation, a total thyroidectomy should be performed if surgery is being considered for these benign thyroid lesions. 14 per 100 000 and for the most part, occurs as part of the multiple endocrine neoplasia syndromes (MEN; see p.