Alexandra Becker

TL;DR: The p.Gly264Ser alteration in RAD51C (encoded by a c.790G>A mutation) was found to be overrepresented in families with breast cancer and ovarian cancer compared to controls, and there was also a statistically significant overrepresentation of this variant in individuals with ovarian cancer from Australia.

TL;DR: A multicenter investigation to compare mRNA splicing assay protocols used by members of the ENIGMA (Evidence-Based Network for the Interpretation of Germline Mutant Alleles) consortium provides recommendations for best practice and raise key issues to consider when designing mRNA assays for evaluation of unclassified sequence variants.

TL;DR: The results suggested that all five UCV tested were benign and that one family carried a putative mutation in an as yet undetected DNA-repair gene, which may serve as a valuable tool that aids the classification of BRCA2 UCV, but very likely also of B RCA1 UCV or aberrations in other genes involved in the DNA- repair system.

TL;DR: The rare finding of a clearly truncating RAD51C mutation in an early-onset BC patient with a BC-only family history supports the notion that compromised RAD 51C function may result in both BC and OC.