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SOD1 is ubiquitously expressed and the mutations confer an unidentified toxic property on the enzyme [3], [4], [5].
Like somatic mutations, most CFC germline mutations confer an increased kinase activity, while some are kinase impaired.
Intragenic RUNX1 mutations confer an adverse prognosis in AML.
Results suggest that protein-truncating BRCA2 mutations confer an elevated RR of early-onset prostate cancer.
24 These mutations confer an increase in the lipid kinase activity of PI3k, indicating gain-of-function mutations that result in active signaling.
The first-degree female relatives of these carriers demonstrated significantly higher incidence of breast cancer than relatives of noncarriers, indicating that pathogenic PALB2 mutations confer an estimated 5.3-fold increase in risk.
Similar(52)
Studies in bacteria and yeast imply mutator mutations confer a selective growth advantage on cells harboring these acquired mutations [ 24, 25].
If mutations confer a proliferative advantage, mutated cells can bypass the in vitro lifespan limit and rapidly replace the existing population [ 14, 15].
The mutations confer a selective advantage to myeloid progenitors at the expense of lymphoid progenitors.
As discussed above, whether these mutations confer a cellular fitness advantage should be dependent on the state of the neighborhood (competing cells and the state of the niche).
Background & Aims: Whereas it has conclusively been demonstrated that biallelic MutY human homolog (MYH) mutations confer a significant risk for colorectal cancer (CRC), the influence of monoallelic mutations remains controversial.
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