A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.

Lesa M DawsonKerri N SmithSalem WerdyaniRobyn NdikumanaCindy PenneyLouisa L WiedeKendra L SmithJustin A PaterAndrée MacMillanJane GreenSheila DroverTerry-Lynn YoungDarren D O'Rielly

Published in: Molecular genetics & genomic medicine (2019)

The RAD51C c.571 + 4A > G variant affects mRNA splicing and should be re-classified as pathogenic according to American College of Medical Genetics and Genomics guidelines.

Keyphrases

dna repair
dna damage
healthcare
single cell
clinical practice
binding protein
oxidative stress