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However, what is striking is that patients with TINF2 mutations have even shorter telomeres compared with patients with DKC1 mutations, which are usually the more severe patient group.
E-cadherin germline mutations have been found in early-onset hereditary diffuse gastric cancer [ 12, 14, 16], and such mutations have even been implicated as risk factors for early-onset breast and colon cancers [ 13, 15].
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When only KRAS WT cases were analyzed patients whose tumours carried the BRAF mutation had even more significantly lower TTP and OS (TTP: 2.1 vs. 6.4 months, p<0.0001; OS: 4.3 vs. 16.3 months, p <0.0001) (Figure 3C and 3D) compared with the results in the whole population.
More to the point, these findings indicate that mutations which have even a minor deleterious effect on the recombination-promoting activity of Atf1 should be readily detectable.
"We always thought 'cure.' " But the size of the gene and the variety of mutations have made even diagnosis problematic and researchers are now looking elsewhere for an answer.
Some studies have even reported RAS mutation in hyperplastic nodules, by virtue of carrying a clonal mutation, but these lesions should be designated as follicular adenomas [ 6, 24].
Complex genomic rearrangements have even been observed in germline mutations, resulting in serious congenital diseases [ 9].
Several studies of human hemoglobin mutations have documented that even small changes in these packing contacts may affect hemoglobin stability and oxygen binding affinity [ 13- 16].
Furthermore, in the Perinatal HIV Prevention Trial, women who received a single dose of NVP intrapartum were less likely to achieve virologic suppression at six months, compared with women not receiving intrapartum NVP, suggesting that their responses to subsequent NNRTI therapy were compromized; those that had NVP resistance mutations had an even poorer response.
A few examples have been recorded where carriers of SQSTM1 mutations have not developed PDB, even by the seventh decade [ 9].
The abnormal dental phenotypes observed with MSX2 mutations have been described as AI even though there is evidence of dentine involvement.
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