Examining risk perception among men with a family history of prostate cancer.

OBJECTIVE: This paper explores factors that influence the formulation of risk perception among men with a family history of prostate cancer who are currently attending a prostate cancer screening clinic. METHODS: Semi-structured interviews were conducted with fifteen participants. Interview transcripts were analyzed using interpretative phenomenological analysis. RESULTS: The following themes were identified: Risk Information Pathways, Experience with Other Prostate Disease, Exposure to Prostate Cancer Screening, Exposure to Affected Relatives, Lifestyle Factors, Illness Beliefs, and Health-Based Risk Comparisons. CONCLUSION: Understanding the contributors to risk perception and applying this knowledge during screening visits and genetic counselling may help to reduce risk distortion and result in increased adherence to screening programs and reduced psychological distress. PRACTICE IMPLICATIONS: Prostate cancer screening should incorporate counselling to address patient-specific risk concepts in order to increase the accuracy and maintain the stability of risk perceptions.

Mutation analysis of B3GALTL in Peters Plus syndrome.

Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the beta1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined in four patients with typical Peters Plus syndrome and four patients that demonstrated a phenotypic overlap with this condition. Mutations in B3GALTL were identified in all four patients with typical Peters Plus syndrome, while no mutations were found in the remaining four patients that demonstrated some but not all characteristic features of the syndrome. The previously reported common mutation, c.660 + 1G > A, accounted for 75% of the mutant alleles in our Peters Plus syndrome population. In addition, two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products. These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition.