In patients with heterozygotic for H63D HFE gene mutation (2 cases) and in only cirrhotic patients the low and intermediate liver iron overload was found (1-2 grade in Scheuer's scale).
Genotypic analysis of RIF resistant cases (table 8) revealed that 20/23 cases (86.9%) showed rpoB gene mutation versus 3 cases (13.1%) having no mutation.
As shown in Table 2, 19 (20.6%) of 92 cases had a PIK3CA gene mutation and 4 cases did not harbor a mutation but showed a gain of gene copy number.
Genotypic analysis of RIF resistant cases revealed that 20/23 cases (86.9%) of RIF resistance were having rpoB gene mutation versus 3 cases (13.1%) having no mutation with a high statistical significant difference between them (P < 0.001).
Wnt5a methylation remained unassociated with age ⩾50 years (OR=1.7, 95% CI=0.9 3.4, P=0.13), but showed a borderline inverse association with germline MMR gene mutation – no methylated cases carried these mutations, whereas 17 unmethylated cases (3%) carried these mutations (P=0.05).
Further, we excluded all CRC patients with known MMR germline gene mutations (11 cases with a known mutation in MLH1, 10 in MSH2, and one in MSH6) and all CRC cases that were deficient in one of the MMR proteins, other than MLH1 (14 MSH2/MSH6 IHC deficient tumors).
Twenty of 39 other Shimaa village strains tested also were resistant to at least 16 µg Mtz/ml, and half of them contained nonsense, frameshift or deletion (null) rdxA gene mutations; other cases of resistance were likely due to missense mutations in these genes.
Among the 15 primary tumors with the three gene mutations, six cases had corresponding hepatic metastatic tumors.
3 Moreover, Witt et al 20 first showed PRSS1 gene mutations (3/30 cases at 3×A16 V) in German paediatric CP patients.
There is a wealth of information in the literature describing the involvement of SDHx gene mutations in cases of hereditary and sporadic cancers including head and neck paraganglioma, pheochromocytoma and gastrointestinal stromal tumours (Miettinen and Lasota 2014).
It has also been well established that the resin composite co-monomer TEGDMA causes gene mutation in some cases in vitro (Schweikl et al. 2006).
