There are many potential complications which have been reported in association with the naevoid basal cell carcinoma syndrome. We have been able to show the relative frequencies of these problems in a population based study of 84 cases in the north west of England. The major complications of basal cell carcinomas and jaw cysts occur in over 90% of patients by 40 years of age, but may both occur before 10 years of age. Less well described complications are ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). This study more clearly defines the possible complications of the syndrome and gives clearer guidelines for counselling and screening affected and at risk persons.
We have investigated the incidence of Gorlin syndrome (GS) in patients with the childhood brain tumour, medulloblastoma. One hundred and seventy-three consecutive cases of medulloblastoma in the North-West Regional Health Authority between 1954 and 1989 (Manchester Regional Health Board before 1974) were studied. After review of case notes, X-rays and health surveys only 2/173 cases had evidence supporting a diagnosis of GS. A further case at 50% risk of GS died of a brain tumour aged 4 years. The incidence of GS in medulloblastoma is, therefore, probably between 1-2%. A population based study of GS in the region started in 1983 was used to assess the incidence of medulloblastoma in GS, which was found to be between 3-5%. This figure is lower than previous estimates, but this is the first population based study undertaken. In view of the early age of onset in GS (mean 2 years) children presenting with medulloblastoma, especially under 5 years, should be examined for signs of the syndrome. Those at high risk of developing multiple invasive basal cell carcinomata will then be identified.
Summary We present the findings of a pilot study to assess the perception of risk in 155 women with a family history of breast cancer by questionnaire. Only 11% of women were able to identify the correct population risk and more than half were unable to assess their own lifetime risk within 50% of the clinicians' estimate. Although it is probable that women are helped by genetic counselling and if at substantial risk, annual mammography, the psychological impact of assigning true risk and the value of mammography need to be evaluated.There has been a growing demand for information on cancer risks and screening options as the importance of family history in certain forms of cancer has been demonstrated. Approximately 8% (Solomon, 1990) of colorectal and 4% (Newman et al., 1988) (Cancer Statistics, 1988) and the increased risk at younger ages is specifically referred to.All new referrals to the clinic from December 1990 to November 1991 were given a questionnaire (Table I) to be completed in the waiting room prior to their appointment.The counselling clinicians (DGRE, AH) were not aware of the results during counselling. There were five questions in all. ResultsOne hundred and fifty-five women attending the family history clinic were included in the study. The average age of the participants was 43.7 years (range 25-70 years). All women completed the questionnaire at least in part. The results of the first two questions are expressed in Figure 1. Only 17/155 individuals (11%) chose the correct population lifetime risk for breast cancer. 41% underestimated and 47% overestimated this figure. However 30% underestimated by more than a factor of 2, compared to only 24% overestimating the figure by this amount. Twenty-six per cent of women could not separate their risk from their choice of population risk despite thinking it increased. 134/155 (86%) of individuals had discussed their breast cancer risk with relatives and 53% felt they were at risk of other malignancies. All but two individuals thought screening would be helpful and these were not sure. The women's personal risk perception figures are correlated with the clinician's estimates in Table II. 68/155 (44%) of individuals had estimated their risk to within 50% of their counselled risk. Twenty-nine per cent had underestimated their risk by more than 50% and 23% had overestimated their risk by more than this. In general, the individual's estimate of risk went up in line with the
One hundred seventy-three consecutive cases of medulloblastoma recorded in the Manchester Children's Tumour Registry from 1954 to 1989 were studied. After review of case notes, X-rays, and health surveys the clinical outcome and incidence of congenital anomaly was determined. A previously unreported association with Rubinstein Taybi syndrome was found. Evidence of a genetic syndrome or congenital anomaly was found in 6.4%. These figures provide further evidence of the higher-than-expected incidence of congenital abnormalities.
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