Search

Saethre-Chotzen syndrome is one of the most common craniosynostosis syndromes. It is an autosomal dominantly inherited disorder with variable expression that is caused by germline mutations in the TWIST1 gene or more rarely in the FGFR2 or FGFR3 genes. We have previously reported that patients with Saethre-Chotzen syndrome have an increased risk of developing breast cancer. Here we have analysed a cohort of 26 women with BRCA1/2-negative hereditary breast cancer to study whether a proportion of these families might have mutations in Saethre-Chotzen-associated genes. DNA sequence analysis of TWIST1 showed no pathogenic mutations in the coding sequence in any of the 26 patients. MLPA (multiplex ligation-dependent probe amplification)-analysis also showed no alterations in copy numbers in any of the craniofacial disorder genes MSX2, ALX4, RUNX2, EFNB1, TWIST1, FGFR1, FGFR2, FGFR3, or FGFR4. Taken together, our findings indicate that mutations in Saethre-Chotzen-associated genes are uncommon or absent in BRCA1/2-negative patients with hereditary breast cancer. [ABSTRACT FROM AUTHOR]

Objective: Approximately 5-10% of prostate cancer cases are caused by dominantly inherited susceptibility to the disease. Although advances have been made in research concerning the genetic mechanisms of hereditary prostate cancer, little is known about the psychological consequences. The aim of this study was to assess possible negative psychological effects of screening for prostate cancer in a high-risk population. Material and Methods: This study was based on a previous study of risk perception, screening practice and interest in genetic testing among unaffected men in families with hereditary prostate cancer. The present study included 87 men from the previous study who were screened regularly for prostate cancer. Of these, 74 men agreed to receive two further questionnaires, both of which included the Hospital Anxiety and Depression Scale (HAD) and the Impact of Event Scale (IES), one of which was filled in on the day of the next screening visit and the other 4-6 weeks later. Results: The response rate was 77% (57/74). There were no statistically significant differences in total or subscale HAD or IES scores between the two points of measurement. There was a trend towards slightly higher HAD scores on the day of the screening visit, but the difference was so small that we did not consider it clinically relevant. In an attempt to identify risk factors for a negative impact of screening several subgroup analyses were performed, but none of these subgroups had significantly higher scores on the day of the visit than afterwards. Conclusion: Most men with a high hereditary risk of developing prostate cancer do not experience severe psychological adverse effects resulting from attendance for screening. [ABSTRACT FROM AUTHOR]