|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Both MUTYH-driven and MSI-H CRCs showed noticeably higher lymphocyte densities than those of microsatellite stable tumors; this difference reached the level of statistical significance for the comparison of central areas of the tumors (p = 0.02 and 0.03, respectively) but not for the invasive tumor margins.
|
31377904 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The importance of this mutation suppression activity in tumor suppressor genes is underscored by the association of inherited variants of MUTYH with colorectal polyposis in a hereditary colorectal cancer syndrome known as MUTYH-associated polyposis, or MAP.
|
30208271 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
On the basis of the prevalence of pathogenic MUTYH and NTHL1 variants in the normal population, we estimate that the frequency of the novel NTHL1-associated tumour syndrome is five times lower than that of MUTYH-associated polyposis.
|
29105096 |
2018 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Liver tumors were observed in MUTYH-null mice after 12 months´ high iron diet, but no tumors developed when dietary anti-oxidant (N-Acetyl-L-cysteine) was also provided.
|
30218772 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Interestingly, CRC patients with tumors in the right side colon showed an evidence for association with the MUTYH p.Y179C mutation compared with tumors in the left side colon (p = 0.01).
|
27631816 |
2017 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, MMR-deficient tumors have been associated with germline mutations in POLE and MUTYH or double somatic MMR events.
|
28577310 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Using siRNA, we showed that knockdown of MYH in PC cells 1) reduced PC cell proliferation and increased apoptosis; 2) further decreased PC cell growth in the presence of oxidative stress and chemotherapy agents (gemcitabine, paclitaxel and vincristine); 3) reduced PC cell metastatic potential; and 4) decreased PC tumor growth in a subcutaneous mouse model in vivo.
|
27999205 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
This review summarises the genetics, clinical manifestations and management of the known familial CRC syndromes, specifically Lynch syndrome, familial adenomatous polyposis, MUTYH-associated neoplasia, juvenile polyposis syndrome and Peutz-Jeghers syndrome.
|
25955461 |
2015 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We analysed the MUTYH gene in 85 'unresolved' patients with tumours showing IHC MMR-deficiency without detectable germline mutation.
|
24518836 |
2014 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Biallelic germline mutations of the MUTYH gene are known to cause multiple colorectal adenomas including polyposis and cancer, mostly due to G:C➝T:A transversions in proto-oncogenes or tumor suppressor genes.
|
22641385 |
2012 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This review discusses the molecular genetic aspects of the MUTYH gene and protein, the clinical impact of mono- and biallelic MUTYH mutations and histological aspects of the MUTYH tumors.
|
20663686 |
2011 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Together, our results indicate that heterozygous MUTYH mutations are associated with families that include both breast cancer patients and colorectal cancer patients, independent of which tumour type is more prevalent in the family.
|
20191381 |
2010 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
High frequent G>T transversions in APC and KRAS2 (mutated in early tumour development) but not in P53 and SMAD4 (implicated in tumour progression) might indicate a predominant MUTYH effect in early carcinogenesis.
|
19527492 |
2009 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Current guidelines for testing and management of MUTYH-associated neoplasia are discussed.
|
18298557 |
2008 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous and homozygous MYH mutation carriers were both at high risk for synchronous cancers (24% in colorectum and 16% in the upper gastrointestinal tract), but did not demonstrate an increased risk for extradigestive tumors.
|
17949294 |
2007 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MYH is a member of the DNA base excision repair (BER) pathway and mutations of this gene predispose to the development of colorectal neoplasia in an autosomal recessive transmission pattern.
|
17219385 |
2007 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The increased incidence of intestinal tumors in MUTYH-null mice (11 tumors in 10 of 121 mice) was statistically significant compared with the wild type (no intestinal tumors in 109 mice).
|
17638869 |
2007 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Allelic deletion or somatic mutation of the remaining MYH allele was not identified in this patient's tumor DNA.
|
17219200 |
2007 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although MYH-associated cancers are rare in a sporadic colorectal population, this study shows that these tumours can develop through either a chromosomal or MSI pathway.
|
17031395 |
2006 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Defective MUTYH activity causes G:C to T:A transversions in tumour APC and other genes thereby altering genomic integrity.
|
15987719 |
2005 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Both cases harboring biallelic MYH mutations had multiple polyps but not profuse polyposis.All cases had distally sited tumors.
|
14991577 |
2004 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The presence of G:C-->T:A transversions in KRAS2 or APC was significantly more common in single MYH variant tumors (9 of 12) than in MYH wild-type tumors (11 of 33; P=0.02).
|
15034862 |
2004 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
G : C --> T : A transversions in k-ras were significantly more frequent in MYH polyposis adenomas than in sporadic or familial adenomatous polyposis-associated tumours (P<or=0.002), and all resulted in a glycine-to-cysteine substitution at codon 12.
|
15083190 |
2004 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We review our knowledge to date of the disease, discuss base-excision repair in relation to cellular defence against oxidative damage, and give an overview of the molecular genetics and clinicopathological features of tumours associated with MUTYH mutations.
|
15465463 |
2004 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.
|
12937124 |
2003 |