Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.

Background: Colorectal neoplasia is one of the most common tumors affecting Western populations.

Methods: In this study we used a custom amplicon sequencing platform and an in-house bioinformatic pipeline to study constitutional DNA from two different case series of Ashkenazi Jews undergoing colonoscopy (n = 765). The first series all had pathologically confirmed colorectal adenomas and/or carcinoma.

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.

Experiences in transitioning a testing laboratoryto the new ISO/IEC 17025:2017 standard.

Since its inception, the international quality standard ISO/IEC 17025 has been revised twice. The most recent edition adopted a new structure to align with other conformity assessment and quality management standards, harmonized the terminology with the International Vocabulary of Metrology and introduced the concept of risk-based thinking. This paper disseminates the experience of the IAEA Radiation Safety Technical Services Laboratory in successful transition and re-accreditation to ISO/IEC 17025:2017.

The Great Majority of Homologous Recombination Repair-Deficient Tumors Are Accounted for by Established Causes.

Gene-agnostic genomic biomarkers were recently developed to identify homologous recombination deficiency (HRD) tumors that are likely to respond to treatment with PARP inhibitors. Two machine-learning algorithms that predict HRD status, CHORD, and HRDetect, utilize various HRD-associated features extracted from whole-genome sequencing (WGS) data and show high sensitivity in detecting patients with bi-allelic inactivation in all cancer types. When using only DNA mutation data for the detection of potential causes of HRD, both HRDetect and CHORD find that 30-40% of cases that have been classified as HRD are due to unknown causes.