Genetics

Researchers identify novel loci that may contribute to the success of asthma treatment in children of African descent, but find these differ between adolescents and younger children.

This independent news story was supported by an educational grant from L’Institut Servier, Suresnes, France.

Men who carry germline mismatch repair pathogenic variants in the MSH2 and MSH6 genes, typically associated with Lynch syndrome, have a significantly higher incidence of prostate cancer than noncarriers, show early data from the IMPACT study.

US researchers have identified diverse molecular and histologic mechanisms of acquired resistance to KRAS G12C inhibitors in people with cancer.

Genomic alterations in CDKN2A are associated with worse clinical outcomes in patients with advanced urothelial carcinoma treated with immune checkpoint inhibitors, report US researchers.

A prognostic tool that integrates clinicopathologic and genomic data provides more information on distant recurrence risk than either feature alone, and can estimate absolute chemotherapy benefit in individual patients with node-negative breast cancer, say researchers.

A prognostic model based on eight DNA repair-related genes may help identify women with breast cancer who are at high risk for death, Chinese researchers report.

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Comprehensive circulating tumor DNA analysis can identify therapeutically targetable driver and resistance mutations in patients with advanced non-small-cell lung cancer, research indicates.

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Solid tumor patients with NTRK fusion mutations experience “robust and durable responses” to treatment with larotrectinib, but those with other types of NTRK alterations derive “limited benefit” from the selective TRK inhibitor, investigators say.

Chinese researchers have used a combination of long noncoding RNA signatures and cytotoxic T-lymphocyte tumor infiltration to identify four distinct immune classes that may predict response to cancer immunotherapy.

HLA class I evolutionary divergence is associated with response to immune checkpoint inhibitor treatment in people with cancer, show data published in Nature Medicine.

Blood-based next-generation sequencing can be used to identify patients with non-small-cell lung cancer and ALK fusions who will benefit from treatment with alectinib, show results of the phase II/III blood-first assay screening trial.

Treatment with the PARP inhibitor olaparib improves the outcomes of men with metastatic castration-resistant prostate cancer harboring deleterious mutations in homologous recombination repair genes, show trial results.

Genetic liability for rheumatoid arthritis is associated with lower IQ and symptoms of hyperactivity and inattention during childhood and adolescence, supporting a link between genetic risk for the condition and neural phenotypes, UK researchers report.

Tumor mutational burden could be a cross-tumor predictive biomarker of immunotherapy, say US researchers who found an association between mutational load and survival across a wide range of malignancies treated with immune checkpoint inhibitors.

Germline mutations in the BRCA2 gene, but not other DNA damage repair genes, are associated with poorer outcomes among patients with metastatic castration-resistant prostate cancer, study findings indicate.

Vitamin E supplementation may reduce the risk for cancer but only in individuals harboring a particular allele of the catechol-O-methyltransferase gene, suggests an analysis of two randomized trials.

A genome-wide association study has identified novel genetic variants associated with the risk of developing moderate-to-severe asthma, a substantial proportion of which are also associated with mild asthma susceptibility.