BACKGROUND Ovarian clear-cell carcinoma (OCC) is known to have a poor prognosis and selected genetic features of OCC remain unknown. We investigated microsatellite instability (MSI) and the expression of the DNA mismatch repair-related protein, p53. MATERIALS AND METHODS MSI was examined by polymerase chain reaction using mono-, di-, tri- and tetranucleotide repeat markers, and hMSH2, hMLH1, ...

BACKGROUND The marked variability in age at onset of colorectal cancer (CRC) in patients with hereditary nonpolyposis colorectal cancer (HNPCC) makes management decisions difficult. Environmental factors governing the phenotypic variability of cancer-associated syndromes such as HNPCC have not been elucidated. METHODS We determined whether tobacco use would alter CRC risk in carriers of HNPCC...

Epimutation is defined as abnormal transcriptional repression of active genes and/or abnormal activation of usually repressed genes caused by errors in epigenetic gene repression. Epimutation arises in somatic cells and the germline, and constitutional epimutation may also occur. Epimutation is the first step of tumorigenesis and can be a direct c...

Microsatellite instability (MSI) is a hypermutable phenotype that usually arises from either a germline mutation in components of the mismatch repair (MMR) machinery (i.e. hMLH1, MSH2, MSH6 and PMS2) in patients with Lynch syndrome (LS) or somatic hypermethylation of the hMLH1 promoter in sporadic carcinomas. In all colorectal cancers (CRC) is possible to identify the MMR deficiency through pro...

Hereditary nonpolyposis colon cancer is a common hereditary disorder caused by the germ-line mutations of DNA mismatch repair (MMR) genes, especially hMLH1 and hMSH2. We report here the first identification of human compounds with a homozygous inactivation of a MMR gene. In a typical hereditary nonpolyposis colon cancer family, MMR-deficient children conceived from matings between heterozygotes...

Oral medicine specialists rely upon accurate assessment of pathology to rationalise lesion management, especially for high-risk oral epithelial dysplasia, carcinoma in situ (CIS) and oral squamous cell carcinoma. Cross-discipline cancer research has highlighted the role of genetic instability in neoplasia. Improved diagnostic stringency from translation of immunostaining for DNA repair defects ...

Hypermethylation of promoter regions leading to inactivation of tumor suppressor genes is a common event in the progression of several tumor types. We have employed a novel restriction digestion based multiplex PCR assay to analyse the methylation status of promoter regions of tumor suppressor genes (p16, hMLH1, MGMT and E-cadherin) in sporadic breast carcinomas of Indian women. The present res...

94 Correspondence to: Hyung-Ho Kim, Department of Surgery, Seoul National University Bundang Hospital, 166, Gumi-ro, Bundang-gu, Seongnam 463-707, Korea. Tel: 031-1588-3369, Fax: 031-787-4055, E-mail: [email protected] Received December 28, 2009, Accepted April 12, 2010 Overexpression of p53, Mutation of hMLH1 and Microsatellite Instability in Gastric Carcinomas: Clinicopathologic Implications an...