Allelic modification of breast cancer risk in women with an NBN mutation.

Bogna RusakWojciech KluźniakDominika WokołorczykKlaudia StempaAniruddh KashyapHelena RudnickaJacek GronwaldTomasz HuzarskiTadeusz DębniakAnna JakubowskaMarek SzwiecMohammad R AkbariSteven A NarodJan LubińskiCezary Cybulskinull null

Published in: Breast cancer research and treatment (2019)

In Poland, the pathogenicity of the NBN 657del5 mutation is restricted to women with a homozygous GG genotype of missense variant of the same gene (E185Q). This is the first clear example whereby a moderate penetrance breast cancer gene is impacted by a genetic modifier.

Keyphrases

breast cancer risk
genome wide
copy number
genome wide identification
dna methylation
high intensity
intellectual disability
gene expression
autism spectrum disorder
biofilm formation
transcription factor
cystic fibrosis