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Thermo Fisher Scientific Oncomine Childhood Cancer Research Assay

Thermo Fisher Scientific has launched the Oncomine Childhood Cancer Research Assay, a next-generation sequencing panel developed in collaboration with Children's Hospital Los Angeles that specifically targets mutations associated with pediatric and young adult cancers. The assay combines specific mutations, gene amplifications, and fusions over 203 genes representing multiple gene classes, and 1,700 fusion transcripts in two DNA and two RNA pools. The assay is designed to integrate with the Ion Chef system for automated library preparation and amplification, as well as the Ion GeneStudio S5 system and Ion Reporter for bioinformatics and reporting.

The Scan

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.

Study Explores Animated Digital Message Approach to Communicate Genetic Test Results to Family Members

In the Journal of Genetic Counseling, the approach showed promise in participants presented with a hypothetical scenario related to a familial hereditary breast and ovarian cancer syndrome diagnosis.

Computational Tool Predicts Mammalian Messenger RNA Degradation Rates

A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking RNA and genetic features into account, a Genome Biology paper reports.

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.