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Hereditary Gastric Cancer Contributors ID'd Through Retrospective Exome Analysis

In a paper in JAMA Network Open, a team from Sun Yat-Sen University Cancer Center and other centers in China profiles hereditary diffuse gastric cancer (HDGC) risk factors. Starting with data on more than 10,400 gastric cancer cases, the investigators focused in on 542 patients with HDGC. From there, they retrospectively analyzed available exome or targeted sequence data for 284 Chinese individuals with HDGC, searching for germline contributors to the condition, including known risk variants in CDH1. Along with germline risk variants in more than a dozen new and known risk genes, the authors brought in corresponding tumor sequence data for 186 of the cases, uncovering somatic CDH1 alterations in more than one-quarter of the cases, while highlighting a somatic mutation signature linked to a fungal toxin called aflatoxin. "This cohort study provides a genetic landscape for HDGC that challenges the previously reported high germline alteration rate of CDH1 in HDGC and identified new potential susceptibility genes," they write. "Analyses of variant signatures and double-hit events revealed important mechanisms for HDGC tumorigenesis."

The Scan

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.

Neurological Outcomes Linked to Innate Immune Features After Cardiac Arrest

Researchers reporting in Med dig into immune features found a few hours after cardiac arrest that correspond with neurological outcomes.

Mouse Study Finds Circadian Rhythm-Related Gene Expression Changes Linked to Sleep Apnea

A paper in PLOS Biology reveals tissue-specific circadian rhythm and gene expression patterns in an intermittent hypoxia-based mouse model of obstructive sleep apnea.

Polygenic Risk Score to Predict Preeclampsia, Gestational Hypertension in Pregnant Women

Researchers in Nature Medicine provide new mechanistic insights into the development of hypertensive disorders of pregnancy, which may help develop therapeutics.