Methylation of the APC, hMLH1
, p16INK4A, p15, p73 and DAPK1 promoters were performed using methylation-specific PCR in 76 sporadic CRCs.We performed these analyses on sporadic CRC samples gathered from their paraffin embedded tissue blocks.
Excess of hMLH1
germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
Tobacco and inflammation effects in immunoexpression of hMSH2 and hMLH1
in epithelium of oral mucosa.
In studies to clarify epigenetic mechanisms in TGCTs, promoter methylation was shown in genes such as tumor suppressors APC, ARF, TP53, RARB2, BRCA1, RASSF1A, cell cycle regulator CCNA1, DNA repair genes such as MGMT and hMLH1
, transcription factor HOXA9, and PRSS21, which encodes the protein testisin in testis cell maturation (30).
Mutational germline analysis of hMSH2 and hMLH1
genes in early onset colorectal cancer patients.
(1-3) About 5-10% of patients with pancreatic cancer have almost a family history and inherited mutations in few genes, including BRCA2, p16/CDKN2A, PRSS1, STK11, hMLH1
, and FANCC that account for less than 20% of familial clustering.
Support for hMLH1
and MGMT silencing as a mechanism of tumorigenesis in the hyperplastic-adenoma-carcinoma (serrated) carcinogenic pathway in the colon.
Promoter methylation and immunohistochemical expression of hMLH1
and hMSH2 in sporadic colorectal cancer: a study from India.
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1
Additionally, studies have demonstrated that hypermethylation could be in the promoter region of mismatch repair gene hMLH1
in patients with sporadic colorectal cancer with microsatellite instability, which can be used as a basis for treatment and prognosis [39, 40].
It is testified that some major genes are actually involved in the malignant transformation of ovarian endometriosis; among these contributing genes, epigenetic inactivation of Runt-related transcription factor 3 (RUNX3) , human mutL homolog 1 (hMLH1
) , E-cadherin (CDH1) , Ras-association domain family of gene 2 (RASSF2) , and P16 and phosphatase and tensin homolog deleted on chromosome 10 (PTEN)  by promoter hypermethylation was well observed; however, long interspersed nuclear element-1 (LINE-1)  and syncytin-1  were hypo-methylated and activated.
In addition, loss of DNA mismatch repair (MMR) gene hMLH1
via full hypermethylation of the hMLH1
promoter  is highly correlated with the ability of arresting cell death and cell cycle after DNA damage induced by chemotherapy and poor survival prediction for cancer patients , hence plays a role in drug resistance in ovarian  and breast cancers .