RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.

BACKGROUND: RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been suggested to act as genetic modifiers at the age of onset ofMEN2. AIM: The aim of this study is to characterize clinically and molecularly 7 Cypriot patients with familial medullary thyroid carcinoma (FMTC) and 1 with MEN2A and also to determine the allelic frequencies of the RET variants G691S and S904S. SUBJECTS AND METHODS: Seven probands from FMTC families and 1 from MEN2A were screened for the presence of RET mutations and the G691S and S904S variants. Additionally, 226 healthy Cypriots, who served as controls were analysed in an attempt to compare the frequencies of G691S and S904S RET variants to those observed in the 8 patients. RESULTS: The clinical diagnosis of the probands was based on clinical presentation and supported with biochemical findings. The germline C618R mutation of exon 10 was identified in all 8 probands and in 15 relatives from 7 different families. No significant difference in the G691S/S904S variants allele frequencies between patients (4/16 or 25%) and controls (124/452 or 27.4%) was found. CONCLUSIONS: Mutational screening of the RET gene identified a common mutation (C618R) in all 8 (7 FMTC and 1 MEN2A) unrelated Cypriot patients which may be explained by a founder effect. Additionally, no association of the G691S/S904S variants was linked with the disease.

Self-reported versus measured height, weight and body mass index amongst 16-17 year old British teenagers.

OBJECTIVE: To examine the relationships between reported and measured height and weight in a teenage population group, and to assess the impact this may have on estimates of overweight. DESIGN: Data were taken from a sample of teenagers from the 1970 Birth Cohort Study. Multivariate normal regression was used to model differences between self-reported and measured height and weight, using both BMI and a number of other personal and demographic variables to examine influences on reporting differences. RESULTS: Tall, thin individuals were more likely to under-report their height and shorter, fatter individuals to overestimate their height and under-estimate their weight. Self-reported height and weight data when used to calculate BMI would result in a lower estimate of overweight teenagers. Self-assessment of body fatness, (but no other personal or demographic variable), was influential on the height and weight reporting of females in this study. CONCLUSION: Self-reported height and weight data from a teenage population should be used with caution, particularly if classifying individuals by BMI or when using weight measurements to estimate energy requirements.