Colorectal cancer
OMIM:114500Mode of inheritance:Autosomal dominant
Disease classification:Neoplasms
Mutations
| Gene Symbol | BRAF |
|---|---|
| Reference transcript | NM_004333.4 |
| DNA Change | c.1799T>A |
| A.A. Change | p.Val600Glu |
| Exon/Intron | exon 15 |
| Mutation Type | substitution |
| Reference | Marchoudi N, Amrani Hassani Joutei H, Jouali F, Fekkak J, Rhaissi H.Distribution of KRAS and BRAF mutations in Moroccan patients with advanced colorectal cancer. Pathol Biol (Paris). 2013 Dec;61(6):273-6. |
Polymorphisms
| Gene symbol | MTHFR | ||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_005957.4 | ||||||||||||||||||||||||||||||
| DNA Change | c.665C>T (C677T) | ||||||||||||||||||||||||||||||
| A.A. Change | p.Ala222Val | ||||||||||||||||||||||||||||||
| Exon/Intron | exon 4 | ||||||||||||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||||||||||||
| Reference SNP | rs1801133 | ||||||||||||||||||||||||||||||
| Cases | 36 colorectal adenocarcinoma patients | ||||||||||||||||||||||||||||||
| Controls | 36 healthy controls | ||||||||||||||||||||||||||||||
| Frequency |
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| Comments | There was a significant association between MTHFR-C677T polymorphism and colorectal cancer. | ||||||||||||||||||||||||||||||
| Reference | B. Diakite, A. Benmoussa, K. Hamzi, H. Jouhadi, S. Nadifi
Colorectal cancer and polymorphism of methylenetetrahydrofolate reductase (C677T) in Morocco African Journal of Cancer July 2012 |