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Analysis Reviews Management of Cancer Patients With Presumed Germline Pathogenic Variant From Tumor Sequencing

A retrospective analysis of hundreds of cancer patients who underwent tumor-only comprehensive genomic profiling (CGP) that uncovered possible secondary findings (SFs) that were then confirmed is presented in the Journal of Human Genetics this week. As tumor sequencing becomes increasingly used to help personalize cancer treatment, germline pathogenic variants (GPVs) unrelated to the disease are sometimes identified and disclosed to the patient. In the study, a team led by scientists from Tohoku University Hospital reviewed 710 patients with advanced solid tumors being treated at the medical facility, starting from when their tumors were profiled through the confirmation of SFs, along with the decisions of the hospital's molecular tumor board (MTB). The researchers find that the MTB recommended confirmatory testing of SFs for 64 patients. Informed consent was obtained by attending physicians for 53 of these patients, 30 of whom then underwent testing and 17 of whom tested positive for a germline variant. Other findings include no difference in a tumor's variant allele frequency between confirmed positive and negative cases for variants determined as presumed GPV by the MTB. "The practical results at this single facility will serve as a guide for the management of the selection and distribution of SF in the genome analysis," the study's authors write.

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.