Decision regret in breast cancer patients after adjuvant radiotherapy.

PURPOSE: Breast cancer patients often engage in shared decision-making to select an individualized treatment regimen from multiple options. However, dissatisfaction with treatment outcomes can lead to decision regret. We evaluated decision regret and physical and psychological well-being among breast cancer patients who underwent adjuvant radiotherapy and explored their associations with patient, tumor, treatment, and symptom characteristics. METHODS: This cross-sectional study involved retrospectively obtaining clinical data and data collected through interviews carried out as part of regular long-term medical aftercare. Decision regret regarding the radiotherapy was assessed using the Ottawa Decision Regret Scale, physical and psychological well-being were assessed using the PROMIS Global Health-10 questionnaire, and patients were asked about their treatment outcomes and symptoms. The questionnaire was administered 14 months to 4 years after completion of radiotherapy. RESULTS: Of the 172 included breast cancer patients, only 13.9% expressed high decision regret, with most patients expressing little or no decision regret. More decision regret was associated with volumetric modulated arc therapy, chest wall irradiation, use of docetaxel as a chemotherapy agent, lymphangiosis carcinomatosa, new heart disease after radiotherapy, and lower psychological well-being. CONCLUSION: Although most patients reported little or no decision regret, we identified several patient, treatment, and symptom characteristics associated with more decision regret. Our findings suggest that psychological well-being influences patients' satisfaction with therapy decisions, implying that practitioners should pay special attention to maintaining psychological well-being during shared decision-making and ensuring that psychological assessment and treatment is provided after cancer therapy to deal with long-term effects of radiotherapy.

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

Optic nerve hypoplasia (ONH) is a congenital malformation with a reduced number of retinal ganglion cell axons in a thin optic nerve. It is a common cause of visual impairment in children and ONH is associated with neurodevelopmental disorders, pituitary hormone deficiencies, and brain malformations. In most cases, the aetiology is unknown, but both environmental factors and genetic causes have been described. This study aimed to identify genetic variants underlying ONH in a well-characterised cohort of individuals with ONH. We performed array comparative genomic hybridization and whole genome sequencing in 29 individuals with ONH. Rare variants were verified by Sanger sequencing and inheritance was assessed in parental samples. We identified 11 rare single nucleotide variants (SNVs) in ten individuals, including a homozygous variant in KIF7 (previously associated with Joubert syndrome), a heterozygous de novo variant in COL4A1 (previously described in an individual with porencephaly), and a homozygous variant in COL4A2. In addition, one individual harboured a heterozygous variant in OPA1 and a heterozygous variant in COL4A1, both were inherited and assessed as variants of unknown clinical significance. Finally, a heterozygous deletion of 341 kb involving exons 7-18 of SOX5 (associated with Lamb-Schaffer syndrome) was identified in one individual. The overall diagnostic yield of pathogenic or likely pathogenic variants in individuals with ONH using whole genome sequencing was 4/29 (14%). Our results show that there is a genetic heterogeneity in ONH and indicate that genetic causes of ONH are not rare. We conclude that genetic testing is valuable in a substantial proportion of the individuals with ONH, especially in cases with non-isolated ONH.