The pair had helped identify a still-unnamed disease, which they had tied to a particular gene and to a particular somatic mutation—a genetic change that had not been passed down from a parent and was ...

People with Li-Fraumeni syndrome often develop cancer as children or young adults, and the germline mutation is associated with a high lifetime risk of cancers, such as breast cancer, bone cancer, ...

The PubMed database was searched from January 2018 to May 2024. Articles were selected for inclusion if they reported on patients with metastatic prostate cancer who received a germline or somatic ...

In HNPCC, a germline mutation (usually in hMLH1 or hMSH2) is accompanied by one further event (usually allelic loss) to inactivate a mismatch repair gene. In contrast, somatic mutations in the ...

Germline gene therapy and somatic gene therapy are two quite different proposals, and the legitimate concerns and risks of the former should not be used to stall progress on the latter.

A recent study published in Cell reveals that the repeated DNA sequence that leads to Huntington’s disease (HD) expands ...