Mutational Scanning Symposium 2026, 25-27 March, Melbourne

Applications now open.

Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence for variants in BRCA1 , over half of reported single-nucleotide variants (...

BRCA1 and BRCA2 are well known breast cancer predisposition genes, however, many variants have not yet been classified for their pathogenicity. Here, the authors analyse a large combined cohort to pro...

BRCA1 and BRCA2 are well known breast cancer predisposition genes, however, many variants have not yet been classified for their pathogenicity. Here, the authors analyse a large combined cohort to pro...

While polygenic scores (PGSs) have shown promise in advancing precision medicine by capturing the additive effects of common germline variants on inherited disease risk, they are presently limited by ...

Today, Cancer Research UK, the NIHR and the EPSRC are announcing £10 million to create the Cancer Data-Driven Detection programme

CRISPR–Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line was used for comprehensive functional characterization of single nucleotide variants in a region of BRCA2, and...