The FDA has approved Zegfrovy (sunvozertinib) for locally advanced or metastatic NSCLC with EGFR exon 20 insertion mutations.

Study results advance understanding of how human cells evolved and could help point to new solutions for patients with rare genetic diseases.

Patients with ovarian clear cell carcinoma (OCCC) whose tumors have specific mutations in the PPP2R1A gene were found to have improved survival following immunotherapy compared to patients without ...

Scientists with the NIH-backed SMaHT Network are mapping every DNA mutation in the human body, creating a groundbreaking reference to understand aging, cancer, and disease.

A membrane transport protein called SLC13A5 has previously been linked to a severe form of epileptic encephalopathy.

Viruses closely related to the deadly MERS coronavirus are lurking in bats and one group, known as HKU5, may be just one mutation away from making the jump to humans. A new study reveals how these ...

Introduction: The pathogenic variant c.536G>A (p. R179H) of smooth muscle alpha-actin 2 (ACTA2) causes multisystemic smooth muscle dysfunction syndrome (MSMDS), a severe disorder marked by ...

Allelic mutations of the RUNX1 gene, including deletions, missense mutations, splicing alterations, frameshift mutations, and nonsense mutations, can lead to a rare autosomal recessive genetic ...