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Extra info for A Practical Guide to Human Cancer Genetics
Both VHL disease-associated and sporadic cerebellar and spinal haemangioblastomas show chromosome 3p allele loss and somatic VHL gene mutations. Haemangioma Familial cavernous haemangiomas of the brain may be inherited as a dominant trait with incomplete penetrance. In familial cases, cavernous haemangiomas are often multiple but may be asymptomatic and only detected by magnetic resonance imaging (MRI) scanning. , 1997). , 1999). In a molecular genetic survey of 121 cerebral cavernous haemangioma probands with familial and/or multiple lesions, Cave-Riant et al.
1997). , 1999). 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.
Germline mutations in P53, PTCH (Gorlin syndrome) and APC may be associated with susceptibility to centeal PNETs. In contrast to the peripheral type, such as Ewing sarcoma, t(11;22)(q24;q12) is uncommon in the central type. Taylor et al. (2000) reported a kindred with two affected relatives with a posterior fossa brain tumour in infancy (cerebellar malignant rhabdoid tumour) and posterior fossa choroids plexus carcinoma and a germline SMARCB1 (hSNF5) splice-site mutation. , 2002). , 2004). , 2004).