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Finding Mutations that Protect

Technology Review has a Q&A with Ken Offit, chief of the clinical genetics service at Memorial Sloan-Kettering Cancer Center, who is leading a new study looking for protective variants in women with mutations in BRCA2. He hopes to use SNP arrays and a large number of study participants worldwide to find what factors might protect women who are genetically predisposed to getting breast cancer from getting it. They've already got 5,000 BRCA2 carriers to look at, and hope to extend the study to other types of cancer. "The question is whether the same factors that protect women from getting breast cancer or other cancers in the face of strong genetic predisposition will be generalizable to the population at large," he says.

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.