1st description analysis of MLH1, MSH2 & MSH6 in Algerian families with suspected Lynch syndrome Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Sunday, August 28, 2016

1st description analysis of MLH1, MSH2 & MSH6 in Algerian families with suspected Lynch syndrome



open access:
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome 

  21 different families from East of Algeria
  This work represents the implementation of a diagnostic algorithm for the identification of Lynch syndrome patients in Algerian families.

Results

We screened 21 unrelated Algerian probands (13 males and 8 females) with suspicion of Lynch syndrome. In fact, 19 patients of 21 were younger than 50 years when diagnosed with confirmed adenocarcinoma of the colon or rectum or of the HNPCC spectrum, and 2 patients were older than 50 years but presenting a family history of Lynch syndrome at the time of diagnosis. The individual age at the moment of the study varied between 25 and 57 with a median age of 41 years. Clinical and tumor related characteristics of patients and their relatives are summarized in Table 2. Genealogical data of the three families fulfilling Amsterdam I/II criteria for HNPCC are presented in Fig. 1.

Conclusion
Definitive conclusions are not possible, given the limited number of samples analyzed. The benefits of universal tumor testing may be limited by the availability and patient acceptance of genetic testing. More attention should be given to increasing the awareness of the Algerian population of hereditary CRC. Initially, we confirmed that MSH2, MLH1, andMSH6 contribute to CRC susceptibility in our families. The exploration of the MMR genes by sequencing and MLPA, in this work, has enabled the implementation of a diagnostic algorithm for the identification of HNPCC. However, it should be interesting to adopt a specific program on cancer genetics to improve the strategies for identifying individuals at high risk of CRC. Therefore, further screening tests in tumors need to be performed like IHC or MSI-analysis of all CRCs. This may be an effective tool for identifying more LS in Algerian families. In terms of prevention, the surveillance of individuals at high risk for CRC prevents the development of advanced CRC, and the clinical management may result in reduced cancer mortality for probands and their families.

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