A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.

Background: An unclassified variant (UV) in exon 1 of the MLH1 gene, c.112A > C, p.Asn38His, was found in six families who meet diagnostic criteria for Lynch syndrome.

Short term psychological distress in patients actively approached for genetic counselling after diagnosis of breast cancer.

This prospective study assessed anxiety, depression and breast cancer-specific distress in recently diagnosed breast cancer patients before and after an active approach for genetic counselling at the beginning of adjuvant radiotherapy (mean: 52 days after surgery). Patients completed the hospital anxiety and depression scale (HADS) and the impact of event scale (IES). Psychological distress did not increase after the approach.