Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.

Romy L S MesmanFabienne M G R CalléjaMiguel de la Hoya Peter Devilee Christi J van Asperen Harry Vrieling Maaike P G Vreeswijk

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

These results allow refinement of variant interpretation guidelines for BRCA2 by providing insight into the functional consequences of naturally occurring and variant-related alternative splicing events.

Keyphrases

breast cancer risk
copy number
clinical practice
biofilm formation
binding protein
gene expression
escherichia coli
dna methylation
cystic fibrosis
drug induced