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Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer - the DNA microarray assay

100%

Stojcev Z., Banasiewicz T., Kaszuba M., Sikorski A., Szczepkowski M., Bobkiewicz A., Paszkowski J., Krokowicz Ł., Biczysko M., Szmeja J., Jurkowska M., Majewski P., Mackiewicz A., Lamperska K., Drews M., Wojciechowski J.

Acta Biochimica Polonica

2013

vol. 60

issue 2

195-198

Detection of mutations in families with a hereditary predisposition to colon cancer gives an opportunity to precisely define the high-risk group. 36 patients operated on for colon cancer, with familiar prevalence of this malignancy, were investigated using the DNA microarrays method with the potential detection of 170 mutations in MLH1, MSH2, MSH6, CHEK2, and NOD2 genes. In microarrays analysis of DNA in 9 patients (25% of the investigated group), 6 different mutations were found. The effectiveness of genetic screening using the microarray method is comparable to the effectiveness of other, much more expensive and time-consuming methods.

Hereditary Nonpolyposis Colorectal Cancer in Lower Silesia

100%

Stal A., Stembalska A., Śmigiel R., Tarkowski R., Grzebieniak Z., Sąsiadek M.

Polish Journal of Surgery

2007

vol. 79

issue 3

182-189

The aim of the study was to assess the frequency of hereditary nonpolyposus colorectal cancer in the Lower Silesia area.Material and methods. The study population consists of 318 patients hospitalized between 2001-2002 on 14 surgical wards in the Lower Silesia area. Patients formed four groups: hereditary nonpolyposis colorectal cancer (HNPCC), suspected HNPCC (S-HNPCC), familial colorectal cancer (FCC) and cancer familial aggregation (CFA). The epidemiological data were analyzed (age on onset, gender, localization, extracolonic tumors in family).Results. 3.77% of all patients with colorectal cancer (CRC) were diagnosed with HNPCC and 6.92% with S-HNPCC. The mean age of CRC onset in HNPCC group was 53.07; in the S-HNPCC group, 62.2. Seven male and 5 female patients were diagnosed with HNPCC; for S-HNPCC, 14 males and 8 females were diagnosed. In the HNPCC group, 55.55% of CRC were situated in the right colon and in 44.55%, the left colon. In the S-HNPCC group, 28.57% CRC was in the right colon and in 71.43%, the left colon. In the HNPCC and S-HNPCC groups, there were 4 patients diagnosed with synchronous sigmoid and rectal adenomas. Two of them were diagnosed during intraoperative colonoscopy. One patient was diagnosed with 3 metachronous lesions. In the families of 6 patients with HNPCC extracolonic tumors were identified.Conclusions. 1. Knowledge of HNPCC criteria ensures proper treatment of the patient and their family. 2. During colonoscopy, the whole colon should be inspected. 3. Patients suspected of HNPCC should undergo intraoperative colonoscopy.

Molecular screening for hereditary nonpolyposis colorectal cancer in Bulgaria

88%

Kadiyska T., Goranova T., Dineva G., Nedin D., Alexandrova A., Gegova A., Kaneva R., Damyanov D., Kremensky I., Mitev V.

Open Medicine

2006

vol. 1

issue 2

128-135

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease, caused by germline mutations in DNA mismatch-repair genes (MMR). These mutations lead to microsatellite instability (MSI). It has been found that the MSI is not confined to the setting of hereditary disease and may be seen in approximately 12-17% of the sporadic CRCs. In 1998 a National Registry for CRC was instituted in Queen Giovanna Hospital, Sofia. A total of 150 patients have been selected for MSI analysis and 25 tumors showed to be unstable, 14 with loss of heterozygosity (LOH). These tumors were further analyzed for MLH1 promoter hypermethylation and a significant association between this epigenetic change and MSI/LOH sporadic cases. We proposed this method as a step that follows the analysis for MSI and prior to the screening for MMR mutations. The mutation screening detected four known and two novel mutations, one unpublished and four known intronic polymorphisms in both hMLH1 and hMSH2 genes. The use of IHC analysis has been found effective in the investigation of some unclear molecular variations. We developed an efficient diagnostic strategy for HNPCC testing and the mutation status of 80% MSI HNPCC cases could be detected.

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Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer - the DNA microarray assay

Hereditary Nonpolyposis Colorectal Cancer in Lower Silesia

Molecular screening for hereditary nonpolyposis colorectal cancer in Bulgaria