期刊
ANTICANCER RESEARCH
卷 32, 期 10, 页码 4347-4351出版社
INT INST ANTICANCER RESEARCH
关键词
I219V; MLH1; MSH2; Lynch syndrome; single-nucleotide polymorphism
类别
资金
- Brazilian National Institute of Science and Technology in Oncogenomics (Fundacao de Amparo a Pesquisa do Estado de Sao Paulo - FAPESP) [05/05155-6, 2008/57887-9]
- CAPES
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [05/05155-6] Funding Source: FAPESP
Background: Some single-nucleotide polymorphisms are associated with higher risk of colorectal cancer development and are suggested to explain part of the genetic contribution to Lynch syndrome. Aim: To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features. Materials and Methods: DNA was obtained from peripheral blood and polymerase chain reaction (PCR) was performed, followed by direct sequencing. Results: The Val allelic of the I219V polymorphism was found in 51.61% (64/124) of the individuals, with an allelic frequency of 0.3. MLH1 or MHS2 pathogenic mutations were found in 32.81% (21/64) and in 23.33% (14/60) of Val-carriers and non-carriers, respectively. Conclusion: The Val-carrying genotype was frequent in the studied population; however, it does not appear to exert any modifier effect on MLH1 or MSH2 pathogenic mutations and the development of colorectal cancer.
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