Nature

Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer

Somatic mutations are a hallmark of tumorigenesis and may be useful for non-invasive diagnosis of cancer. We analyzed whole-genome sequencing data from 2,511 individuals in the Pan-Cancer Analysis of ...
Nature

The P286R mutation of DNA polymerase ε activates cancer-cell-intrinsic immunity and suppresses endometrial tumorigenesis via the cGAS-STING pathway

Endometrial carcinoma (EC) is a prevalent gynecological tumor in women, and its treatment and prevention are significant global health concerns. The mutations in DNA polymerase ε (POLE) are recognized ...
Kaleido Scope

Known Mutation Testing (KT2)

We offer targeted detection of a previously characterized mutation within the family. From a fresh EDTA blood sample, DNA is extracted directly and the target region is amplified and directly ...
National Geographic news

Should you get tested for a BRCA gene mutation? It’s complicated.

Certain genetic mutations can boost your risk of breast cancer. Here’s what experts say you need to know when making the decision to get tested. Possible anomalies in a breast cancer screening are ...
EurekAlert!

World's first individual gene mutation test for predicting risk of sudden cardiac death

Scientists at the Victor Chang Cardiac Research Institute have developed a world-first individualised risk prediction tool for people suffering from a type of heart arrhythmia that can cause sudden ...