Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Importance: Between 5% and 10% of breast cancer cases are associated with an inherited germline pathogenic or likely pathogenic variant (GPV) in a breast cancer susceptibility gene (BCSG), which could alter local and systemic therapy recommendations. Traditional genetic testing criteria misses a proportion of these cases.

Objective: To evaluate the prevalence and clinicopathological associations of GPVs in 2 groups of BCSGs among an ethnically diverse cohort of women with newly diagnosed breast cancer.

Towards equity & inclusion: a critical examination of genetic Counselling Education on Intersex Healthcare.

Background: Intersex describes a diversity of individuals with variations in sex characteristics (VSC), reflecting underlying differences in reproductive anatomy, hormones, and/or genes and chromosomes. With a shift towards socially-conscious clinical practices, genetic counsellors (GCs) are increasingly needing to provide comprehensive care to individuals with VSC and their families. However, the current quality of training provided to genetic counsellors on intersex health is unclear.

[Preventive surgery after vascular reconstruction for chronic lower limb ischemia].

Objective: To analyze the results of redo reconstructions of lower limb arteries in patients with obliterating atherosclerosis, immediate and long-term results in patients who underwent reconstructive interventions with occlusion of previous reconstruction and preventive interventions.

Material And Methods: The study included 43 patients. The main group (group 1) consisted of 18 patients who underwent preventive vascular reconstructions.

[LONG-TERM RESULTS OF TREATMENT OF PATIENTS WITH VARICOSE DISEASE AFTER USING ASVAL TECHNIQUE].

The goal of this research is to evaluate the effectiveness of using the ASVAL technique in patients with varicose disease of lower limbs. The authors evaluated the results of treatment and the dynamics of life indicators of 84 patients with varicose disease of lower limbs after using the ASVAL technique. The age of operated patients varied from 18 to 57 years, 22 (26,2%) were male and 62 (73,8%) were female.

Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.

It was hypothesized that variants in underexplored homologous recombination repair (HR) genes could explain unsolved multiple-case breast cancer (BC) families. We investigated HR deficiency (HRD)-associated mutational signatures and second hits in tumor DNA from familial BC cases. No candidates genes were associated with HRD in 38 probands previously tested negative with gene panels.