Geographical Distribution Incidence Malignancies and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.
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.
Results provide evidence that decreased expression of Nibrin in chronic hypoxia is associated with hypoxia-induced chemoresistance in some brain tumor cells.
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