|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
8, 10 %); (2) MutYH mutated polyposis (MAP), adenomas >50 % and biallelic MutYH mutations (no.
|
27783336 |
2017 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thirteen others were mono-allelic carriers (heterozygotes) of a single MUTYH mutation: six had more than ten adenomas and seven had less than ten adenomas; of these 13 mono-allelic carriers, six had a neoplasm: three CRCs and three extra-intestinal tumors.
|
25822476 |
2015 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Two MUTYH mutations, G396D and Y179C, were studied in 1,413 individuals, with MUTYH sequence analysis in 46 cases with CRC in a sibling or adenoma.
|
22371070 |
2012 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The prevalence of pathogenic APC and biallelic MUTYH mutations was 95 of 119 (80% [95% CI, 71%-87%]) and 2 of 119 (2% [95% CI, 0.2%-6%]), respectively, among individuals with 1000 or more adenomas, 756 of 1338 (56% [95% CI, 54%-59%]) and 94 of 1338 (7% [95% CI, 6%-8%]) among those with 100 to 999 adenomas, 326 of 3253 (10% [95% CI, 9%-11%]) and 233 of 3253 (7% [95% CI, 6%-8%]) among those with 20 to 99 adenomas, and 50 of 970 (5% [95% CI, 4%-7%]) and 37 of 970 (4% [95% CI, 3%-5%]) among those with 10 to 19 adenomas.
|
22851115 |
2012 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
|
19793053 |
2009 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
After further requests, her family case history revealed that her brother had had between 10 and 15 adenomas and turned out to carry both MUTYH germ line mutations.
|
18172263 |
2008 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
LHGDN |
Among patients with multiple adenomas, biallelic MYH mutations account for approximately 30% of APC mutation negative cases and two thirds of these carry mutations other than the "common" Y165C and G382D variants.
|
17219385 |
2007 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although the number of adenomas appears to be dependent on the number of mutated MYH alleles present in a patient, little is known on the relation of this number with cancer risk.
|
17949294 |
2007 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
LHGDN |
The heterozygous genotype of OGG1 c.1-18G>T was closely associated with multiple adenoma families (P < 0.001), while MYH A359V mutation exhibited a tendency (P = 0.053).
|
17252231 |
2007 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our objective was to determine the significance of MYH mutations in a series of Canadian patients with multiple adenomas.
|
17219385 |
2007 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Biallelic germline MUTYH mutations have been proved to greatly predispose to non-familial adenomatous polyposis (FAP) and non-hereditary non-polyposis colorectal cancer (HNPCC) familial recessive forms of colorectal cancer with multiple adenomas.
|
17931073 |
2007 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
LHGDN |
Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea.
|
16521226 |
2006 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Adenomas and carcinomas from patients with MYH biallelic mutation showed a different pattern of expression: a strong granular cytoplasmic staining was observed without any nuclear expression.
|
16890597 |
2006 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Bi-allelic germline mutations in the MUTYH gene give rise to multiple adenomas and an increased incidence of colorectal cancer.
|
16943222 |
2006 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Because biallelic MYH mutations occur in patients with both high and low numbers of adenomas, we hypothesized that MYH is involved in the tumorigenesis of microsatellite stable colorectal cancers in patients without vertical transmission of disease and who fulfill the Bethesda guidelines.
|
16645203 |
2006 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
LHGDN |
[MYH and colorectal cancer. A significant advance?].
|
16938257 |
2006 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, biallelic mutations in the base excision repair gene MYH have been shown to predispose to a multiple adenoma and carcinoma phenotype.
|
16287072 |
2006 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
LHGDN |
Mutations in MBD4 are unlikely to be implicated in HPS; MYH mutations should be studied, especially when adenomas occur in the same patient.
|
16831587 |
2006 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
AXIN2 and MUTYH genes were screened for germline mutations by PCR and direct sequencing in 39 unrelated patients with multiple adenomas or colorectal cancer without evidence of APC mutation nor mismatch repair defect.
|
16941501 |
2006 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
LHGDN |
Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.
|
15890374 |
2005 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the MYH gene should be considered in individuals with multiple adenomas whose family history does not reflect an autosomal dominant pattern of inheritance.
|
15947872 |
2005 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
LHGDN |
None of the 141 normal-population adenoma patients carried biallelic germline MYH variants (95% CI = 0.06-4.1%) and 3 were heterozygotes (2.1%).
|
14999774 |
2004 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MYH, OGG1 and MTH1 are members of base excision repair (BER) families, and MYH germline mutations were recently identified in patients with multiple adenomas or familial adenomatous polyposis (FAP).
|
15449173 |
2004 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, germline mutations in the base-excision repair gene MYH (1p33-34) have been described in patients with multiple adenomas, pointing to a possible role as disease modifier in FAP.
|
14735163 |
2004 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
LHGDN |
The multiple colorectal adenoma phenotype and MYH, a base excision repair gene.
|
15290654 |
2004 |