The findings provide strong independent evidence for the association of GALNT12 defects with CRC-susceptibility; underscoring implications for glycosylation pathway defects in CRC.
LOH analyses glycosylation pattern tests and case-control studies our results did not support the role of c.907G>A p.(D303N) as a high-penetrance risk allele for polyposis CRC
Results rule out GALNT12 as a major high familial colorectal cancer susceptibility gene. Additional studies are required to provide further evidence about its role as a moderate/low susceptibility gene in familial aggregation of cancer.
we integrated different computational tools to perform the in silico analysis of clinically significant mutations (nsSNPs/single amino acid change) at both functional and structural levels found in human GALNT3 GALNT8 GALNT12 and GALNT13 genes.
inactivating GALNT12 mutations were identified as acquired somatic mutations in a set of 30 microsatellite stable colon tumors; Observational study of gene-disease association. (HuGE Navigator)
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