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 nullPublished 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.