Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0699790 (colon cancer)
 28,837 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Activation of C-Ki-ras oncogene by point mutation within codon 12,13 was determined by Polymerase Chain Reaction (PCR) using specific oligonucleotide probes. In 9 of 42 colon cancer specimens point mutations in codon 12 of C-Ki-ras oncogene were found. The point mutations identified were GGT(Gly)----GAT(Asp) (4 cases), GGT (Gly)----TGT (Cys) (3 cases) and GGT(Gly)----GTT(Val) (2 cases), respectively. Two types of point mutations (GGT----GAT, GGT----TGT) were found simultaneously in one specimen. The results showed that there was no relationship between the point mutation of C-Ki-ras oncogene and patient's sex, age, state of metastasis or prognosis.
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PMID:[Detection of point mutations of C-Ki-ras oncogene in colon cancer by PCR using specific oligonucleotide probes]. 139 73

Medulloblastoma is a malignant, invasive embryonal tumour of the cerebellum which manifests preferentially in children. A subset of cases is associated with colon cancer and APC germline mutations (Turcot syndrome), and APC and beta-catenin point mutations occur in up to 10% of sporadic cases, indicating the involvement of the Wnt pathway in the development of medulloblastoma. In 39 sporadic cerebellar medulloblastomas screeened for alterations in the AXIN1 gene, another component of the Wnt pathway, we found missense AXIN1 mutations in two tumours, CCC-->TCC at codon 255 (exon 1, Pro-->Ser) and TCT-->TGT at codon 263 (exon 1, Ser-->Cys). Furthermore, the A allele at the G/A polymorphism at nucleotide 16 in intron 4 was significantly over-represented in medulloblastomas (39 cases; G 0.76 vs-A 0.24) compared to healthy individuals (86 cases; G 0.91 vs A 0.09; P=0.0027). RT-PCR revealed large deletions in the AXIN1 gene in 5/12 (42%) medulloblastomas, consistent with a previous report. However, we observed such deletions at a similar frequency also in normal brain tissue (6/12, 50%). Since there are multiple complementary, inverted sequences present in the AXIN1 gene, these large deletions may represent RT-PCR errors due to stem-loop secondary structures.
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PMID:AXIN1 mutations but not deletions in cerebellar medulloblastomas. 1255 76

tRNA-guanine transglycosylase (TGT) is an enzyme which synthesizes a modified nucleoside, queuosine, by exchanging the base moiety of guanosine for queuine in tRNA. We have reported that the expression level of the 60-kDa subunit of TGT (TGT60kD) is elevated in leukemic cells, however, there is no other report on the expression of TGT60kD in cancer cells. The expression levels of the TGT60kD protein are elevated in four of the five colon cancer cell lines and 83% of colon cancer tissues compared with normal tissues. The expression levels of the TGT60kD protein decreased in two colon cancer cell lines, after cell differentiation was induced. A marked positive staining of cancer cells in colon tissues was observed, and the subcellular staining pattern was mainly cytosolic. These data suggest that the role of TGT60kD in colon carcinogenesis.
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PMID:Elevated expression level of 60-kDa subunit of tRNA-guanine transglycosylase in colon cancer. 1524 67