We hypothesized that CN mutations in the SELENBP1 locus could associate with the disorder and that these mutations could alter the gene product's activity in patients.
Mutations in RUNX1 and TET2 were mutually exclusive but both could associate with ASXL1 mutations: two cases showed both an ASXL1 and a TET2 mutation and three cases both an ASXL1 and a RUNX1 mutation.
The authors argued that specific mutations could be associated with severe disease but some could be associated with mild disease due to the appearance of naturally attenuated strains [ 139].
It is tempting to speculate that some of the metastasis-specific mutations could be associated with the acquisition of invasive properties of breast cancer cells.
It has therefore been hypothesized that p300 germline mutations could be associated with a disorder or phenotype other than classical RTS, which has yet to be found.
Thus, bi-allelic FANC mutations could be associated with a partial impairment of CHK1 activation or activity resulting in a better outcome for these patients.
Only missense mutations that fell within the aligned region were used, and each was included only once, to eliminate frequency bias, but multiple disease mutations could be associated with a single site.
In summary, our results suggest that KRAS mutations could be associated with the reduced efficacy of definitive CRT and a shortened survival time in patients with stage III non-squamous NSCLC.
After exclusion of KRAS, NRAS, BRAF and PI3KCA combined mutations could still significantly associate to resistant phenotype (p = 0.045, by Fisher exact test).
Though a genotype-phenotype correlation has not been well established for PDH deficiency, these findings suggest that this particular mutation could be associated to a severe outcome, underlining the need to counteract long-term developmental impairment as much as possible.
