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Several germline mutations and sequence variants in cancer predisposition genes have been described. Among these, the CDKN2A p.A148T variant appears to be frequent in patients with melanoma, at least in certain ethnic groups. In this case-control study, we evaluated 127 patients with cutaneous melanoma and 128 controls from Southern Brazil, the region with the highest melanoma incidence rates in the country. Using PCR-RFLP, we demonstrate that CDKN2A p.A148T variant was significantly more frequent in patients with melanoma than in controls (12.6% vs 3.9%; P = 0.009). There was no association between presence of the polymorphism and tumor thickness, site of the primary tumor, melanoma subtype, age at diagnosis, quantitative and qualitative number of nevi. Patients with a positive family of history for other cancers were particularly prone to carry the CDKN2A p.A148T allele. All patients with p.A148T-positive melanoma reported European ancestry, especially German, and this was confirmed using a panel of ancestry-informative INDELs. Our data suggest that CDKN2A p.A148T is a melanoma susceptibility allele in Southern Brazil and is particularly common in patients with melanoma of predominantly European ancestry. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the consumption of flour derivatives and folate-rich food in a sample of women at childbearing age from Porto Alegre, Brazil. Methods: Four-hundred women at childbearing age (15–45 years) were interviewed, and their socioeconomic status and folate intake were investigated. All women signed an informed consent form. Based on their dietary habits, an estimated calculation of the amount of flour intake was done. Results: Mean daily intake of folate was 220.1 μg. The intake of flour was 176 g/day/woman. The combined intake of folate from folate-rich foods and flour derivatives (wheat and/or corn flour) was 404.7 μg/day/person. Conclusion: Since the recommended daily allowance of folic acid is 400 μg/day, including both folate from food sources and supplements, the addition of folic acid to wheat flour was essential to ensure the intake of the minimum recommended amount. However, there is no guarantee that this amount was maintained on this Brazilian sample when losses resulting from cooking and/or from UV radiation (not considered in this study) are computed. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background The autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating, neurodegenerative diseases, related to fourteen different loci– SCAs 1, 2, 4, 5, 6, 7, 8, 10, 11, 12, 13 and 14, Machado-Joseph disease (MJD/SCA 3), and DRPLA. Objectives (1) to verify the frequency of SCA1, SCA2, MJD, DRPLA, SCA6, SCA7 and SCA8 in a series of new SCA patients from South Brazil and (2) to compare their molecular and clinical characteristics with other patients previously described. Methods sixty-six cases were included in the present study: 52 were familial and 14 sporadic. Molecular analysis of the trinucleotide repeat loci were performed according to methods in the literature. Results 92 % of families with autosomal dominant inheritance segregated the MJD1 mutation, 2 % of families segregated the SCA7 mutation and 6 % remained undiagnosed. Among 14 isolated cases, one showed the SCA8 mutation. Clinical and molecular findings were similar to those already described in the literature, but revealed (1) one SCA7 patient with eyelid retraction, a sign usually related to MJD; and (2) one sporadic case of SCA8. Conclusions The proportion of MJD cases was very high, probably reflecting an Azorean founder effect. The estimated frequency of affected individuals with MJD, in our region, was 1.8 / 100,000, and of SCAs other than MJD, 0.2/100,000. [ABSTRACT FROM AUTHOR]