Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report a MUTYH variant, p.C306W (c.918C>G), with a tryptophan residue in place of native cysteine, that ligates the [4Fe4S] cluster in a patient with colonic polyposis and family history of early age colon cancer.
|
29915346 |
2018 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified 266 probands (91% Caucasians) with a MUTYH mutation (41 biallelic and 225 monoallelic) from the Colon Cancer Family Registry.
|
27194394 |
2016 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone.
|
26202870 |
2015 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Despite the relatively small sample size of the current study, our findings suggest that the MAP is not a frequent cause of colon cancer in Morocco as we had expected, and the molecular analysis of MYH gene should be restricted to patients displaying the classical phenotype of MAP.
|
22266422 |
2012 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In blinded specimens and colon cancer cell lines with defined mutations, ColoSeq correctly identified 28/28 (100%) pathogenic mutations in MLH1, MSH2, MSH6, PMS2, EPCAM, APC, and MUTYH, including single nucleotide variants (SNVs), small insertions and deletions, and large copy number variants.
|
22658618 |
2012 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The biallelic germ line mutations that result in MUTYH-associated colon cancer are also discussed.
|
22252118 |
2012 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Biallelic MUTYH exon 7 and 13 mutations are associated with a high frequency of somatic K-ras gene guanine to thymine transversion mutations at codon 12 position 1 in MUTYH-associated polyposis patients who have increased risk of colon cancer.
|
20110747 |
2009 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically significant for colon cancer (adjusted OR 3.95, 95%CI 1.28-12.20, p = 0.017 for MUTYH Gln324His ; adjusted OR 3.04, 95%CI 1.38-6.71, p = 0.006 for APEX1 Asp148Glu).
|
18823566 |
2008 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Case-control studies of genetic polymorphisms in DNA repair enzymes suggest that the common variant Ser326Cys in OGG1 may be a risk factor for lung cancer, whereas a rare variant in OGG1 and germ line mutations in the corresponding mismatch repair gene MYH are risk factors for hereditary colon cancer.
|
16771692 |
2007 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Increased frequency of disease-causing MYH mutations in colon cancer families.
|
16774938 |
2006 |
Colon Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Correlation of polyp number and family history of colon cancer with germline MYH mutations.
|
16234049 |
2005 |
Colon Carcinoma
|
0.400 |
CausalMutation
|
disease |
CGI |
|
|
|