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Extra resources for A Practical Guide to Human Cancer Genetics
Mean age at diagnosis is 23 years, and less than 10 per cent are bilateral. Cavernous haemangioma is usually non-progressive and serious complications are uncommon. , 1975). A triad of ocular, central nervous system and cutaneous cavernous haemangiomas can be dominantly inherited with variable expression and incomplete penetrance (Brown and Shields, 1985). , 2000). Germline KRIT1 (CCM1) mutation (see p. , 2002). , 1990b). The exact proportion of patients with retinal haemangioblastoma who have this disease is unclear.
00 Source: From Webster et al. (2000). 86 per cent of their patients with retinal angiomatosis. All patients with retinal angioma should be investigated for subclinical manifestations of VHL disease (see Part Three). g. Coat disease) that is not associated with VHL disease. Webster et al. (1998) investigated 17 cases with VHL-like solitary ocular angioma and no evidence of other complications of this disease in themselves or in family members. All 17 cases were negative for germline VHL mutations.
Their results are consistent with a recessive gene which produces a 20-fold increase in relative risk in homozygotes and 28 29 Cardiorespiratory system and thorax would be responsible for approximately two-thirds of cases in the southern Chinese (Easton and Peto, 1990). Using meta-analysis, Burt et al. (1996) also demonstrated a signiﬁcant association with HLA types in non-Chinese populations. , 2002). There is no associated risk for non-Chinese populations. , 1991). , 2004). , 2002), which is situated immediately south of Hunan (South China), so there is strong evidence for genetic heterogeneity and a major environmental factor, EBV infection.