| Autor: |
Anandi, Basavakumar, Teradal, Vinaykumar, Maheshram, Sapna, Waghmare, Renu |
| Předmět: |
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| Zdroj: |
Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research); 2023, Vol. 14 Issue 6, p1225-1233, 9p |
| Abstrakt: |
Background: Subjects having Lynch syndrome do not show any distinct features apart from increased evidence of adenocarcinomas. As Lynch syndrome lacks any distinguished phenotypic feature, its diagnosis is challenging. Aims: The present study aimed to reveal the clinical presentation of Lynch syndrome and to assess if there is a successive decrease in the age of presentation with the generations. The study also aimed to assess if MLH1 mutation acts as a founder mutation for Lynch syndrome and if genetic alteration constitutes the clinical presentation of the disease. Materials and Methods: The Study included 12 families (40 subjects) having colorectal cancer under the age of 50 years or at least two relatives (first/second degree) who had a history of colorectal cancer at any age The TaqMan SNP genotyping assay was done in all the subjects and controls to assess the missense mutation in gees (MSH1, MLH2, MSH6, and PSM 2). The collected data were statistically analyzed. Results: Only 1 individual among the controls was carrying MLH1 mutation. Concerning the haplotype analysis, in the selected 12 families a region of genes in a range of 1-3 Mb was characterized with crossovers present. A shared haplotype was observed between upstream as well as downstream haplotypes in the assessed families. This sharing of haplotype implied that in different families compared, there are mutation events different from the recombination, occurring in the markers of these families. The NREM model was applied along with the COX-R model and these models showed that there was a constant decrease in the consecutive generation regarding the mean age of first-time cancer diagnosis. This decrease in the present study was shown to be by 2.2 years in consecutive generations in the whole study cohort. Conclusion: The results of the present study conclude that the clinical presentation of Lynch syndrome depends on the gene mutated, environmental factors, and personal factors (age and gender). Although the Lynch syndrome incidence is lower globally, with the recent advances in diagnostic criteria and surveillance, more cases with different clinical pictures are identified recently. There was also seen a decrease in the age of detection of the first cancer in Lynch syndrome in successive generations. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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