Mutations in SLC6A19 have been associated with aminoaciduria. Another similar example is the cg06224737 site, located 365 kb from the TSS of the SLC22A13 gene which has been implicated in phosphate and urate reabsorption in human kidney tubules56,57. The methylation level of cg06224737 was...
Confirmation of variants found by NGS: For inherited disorders, it is currently standard practice to confirm detection of variants found by NGS and considered to be pathogenic by a second, “orthogonal” (different) method.63Designing amplicons for detection of point mutations and insertion-deletions...
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and finding characteristic DNA mutations that are found in tumor cells can indicate the presence of residual tumor, even in the setting of clinical remission. Some researchers are investigating the use ofcirculating tumor DNAto detect early stage cancer, even before a diagnosis is made with a tiss...
External proficiency testing results from the United States and elsewhere indicated that current practice for MSI testing is not optimal in most laboratories. Based on this, it is likely that clinical sensitivity in routine practice for mutations in MLH1 and MSH2 will generally be toward the lower...
In addition, several investigations have shown that multiple carcinogens for HCC, such as chronic HBV or HCV virus infection, alcohol abuse, NAFLD/NASH, and aflatoxin B1, may have different somatic mutations [115]. Based on an analysis of the correlation between tumor tissues and their carcinogens...
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5g). Interestingly, we found that the number of truncating mutations was in proportion with the contribution of Signature_MT2 and Signature_MT4 (Fig. 5h), reflecting the potential association of mtDNA truncating mutation with aristolochic acid exposure, DNA base excision repair, azathioprine, and ...
KRAS gene mutations are predictive markers of non-response to anti-epidermal growth factor receptor. An increasing number of techniques are being developed to detect KRAS mutations. To obtain consistent and comparable results, a traceable reference mater
The abundance of mAbs that have been granted FDA approval and the number of cancer types for which they are used continues to grow, which is reflective of the enthusiasm for PD-1/PD-L1 inhibition and its potential application in clinical practice [200]. Still, mAbs possess many drawbacks, ...