Mapping mutations at scale in a single gene reveals new neurodevelopmental condition

The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, ...
Medical Xpress

KRAS mutation type may guide more effective cancer treatments

KRAS is the most frequently mutated oncogene across all human cancers. Although different KRAS mutations have long been thought to exert the same cancer-driving effects, a new study led by UT ...
ascopubs.org

Differential efficacy of tyrosine kinase inhibitors (TKIs) according to the types of EGFR mutations and agents in non-small cell lung cancer (NSCLC): A real-world study.

Cerebrospinal fluid circulating tumor DNA for the detection and characterization of leptomeningeal metastasis in non-small cell lung cancer. This is an ASCO Meeting Abstract from the 2023 ASCO Annual ...
GEN

“Human Domainome” Reveals Cause of Many Diseases

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...