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mismatch repair deficiency

Biocartis Nabs FDA 510(k) Clearance for Lynch Syndrome Screening Assay

The Idylla MSI Test identifies microsatellite instability in colorectal cancer tumors to aid in the identification of potential Lynch syndrome.

CAP Weighs in on dMMR, MSI Assays for Immunotherapy Patient Selection
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In new guidelines, an expert panel recommended IHC and PCR for certain cancer types and pointed out knowledge gaps supporting NGS in other settings.

Researchers Aim to Improve Lynch Syndrome Testing With Genetic-Epigenetic Combination Method
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The sequencing test involves a single library preparation that is then split for parallel analysis of promoter methylation, MSI calculation, and gene mutation detection.

Cancer, Pathology Organizations Developing Clinical Guidelines for MMR, MSI Testing

The groups have written draft recommendations and are now asking for public comment from pathologists and other stakeholders.

Colorectal Cancers Dial up Mutability in Response to Targeted Treatments

A new study suggests that colorectal cancers increase their mutation rate to dodge treatment in a manner that mirrors microbial resistance mechanisms.

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The Scan

Machine Learning Helps ID Molecular Mechanisms of Pancreatic Islet Beta Cell Subtypes in Type 2 Diabetes

The approach helps overcome limitations of previous studies that had investigated the molecular mechanisms of pancreatic islet beta cells, the authors write in their Nature Genetics paper.

Culture-Based Methods, Shotgun Sequencing Reveal Transmission of Bifidobacterium Strains From Mothers to Infants

In a Nature Communications study, culture-based approaches along with shotgun sequencing give a better picture of the microbial strains transmitted from mothers to infants.

Microbial Communities Can Help Trees Adapt to Changing Climates

Tree seedlings that were inoculated with microbes from dry, warm, or cold sites could better survive drought, heat, and cold stress, according to a study in Science.

A Combination of Genetics and Environment Causes Cleft Lip

In a study published in Nature Communications, researchers investigate what combination of genetic and environmental factors come into play to cause cleft lip/palate.