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Literature summary for 1.5.1.20 extracted from

  • Fernandez-Peralta, A.M.; Daimiel, L.; Nejda, N.; Iglesias, D.; Medina Arana, V.; Gonzalez-Aguilera, J.J.
    Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy (2010), Int. J. Colorectal Dis., 25, 141-151.
    View publication on PubMed
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Application

Application Comment Organism
medicine MTHFR variant allele C677T has a protective effect on colorectal cancer development, whereas the variant allele of the A1298C does not produce any effect on disease risk. Both MTHFR polymorphisms are relevant and independent factors of patient outcome after 5-fluorouracil-based treatment of colorectal cancer Homo sapiens

Protein Variants

Protein Variants Comment Organism
A1298C natural polymorphism, not associated with colorectal cancer risk. Patients with 1298CC and AC genotypes exhibit worse survival than those with the wild-type genotype. Variant C allele of A1298C affects negatively the response to 5-fluorouracil-based chemotherapy Homo sapiens
C677T natural polymorphism, has protective effect on colorectal cancer, the TT genotype showing an odds ratios of 0.06 and the CT of 0.51. C677T genotypes do not affect patient survival. C677T allele carriers respond better to 5-fluorouracil-based chemotherapy than patients with the wild-type CC genotype Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining
colon
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 Homo sapiens
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