Журнал интеллектуального анализа данных в геномике и протеомике

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Association of G1691A Mutation in Women with Breast Cancer

Shaik Nazia Tabassum*,Salina Y Saddick

 Objectives: More evidence indicates that the G1691A mutation in the factor V Leiden (FVL) gene might be associated with susceptibility to breast cancer in humans being. Breast cancer is gradually becoming the most common cancer in Indian women, pathogenesis can be influenced by single nucleotide polymorphisms and several studies in the past have identified different genetic variants in the human genome that showed strong or moderate evidence of associations. FVL is a missense mutation, result of an amino acid substitution of glutamine for arginine at 506 position in the factor V molecule at nucleotide 1691 substitutes G for A, resulting in a mutant protein resistant to the anticoagulant action of activated protein C.

Methods: We aimed to investigate the role of G1691A mutation in FVL gene and breast cancer women from south Indian population. One hundred cases and 100 controls were included in this study. DNA was separated and PCR-RFLP was performed followed by 2% electrophoresis.

Results: The results of this study indicates that FVL mutation is associated with breast cancer patients (p<0.05).   Conclusion: Our results concluded that FVL mutation has a role in breast cancer women and these results are supported by prior studies.