Abstract
BACKGROUND: Polymorphism of the genes of Human Epidermal growth factor receptor1 (HER1) and receptor2 (HER2) have been reported to be linked to pathogenesis of several malignant tumors but still there is contradiction regarding their association with breast cancer.OBJECTIVE: In this case control study we aimed to analyze the frequency ofHER1R497K (rs 11543848) andHER2I655V (rs 1136201) Polymorphisms in breast cancer.SUBJECT AND METHOD: The frequency ofHER1Arg(R) 497Lys (K) andHER2Ile (I) 655Val (V) polymorphisms were tested in 64 breast cancer patients and 86 normal control by polymerase chain reaction followed by restriction fragment polymorphism detection. Immunohistochemical analysis was done for HER2 protein on the available 18 malignant tissue samples.RESULTS:HER1497K andHER2655V variant had significantly increased breast cancer risk (OR=2.6, 95% CI 1.6–4.2, OR=2.2, 95% CI 1.2–4.1, p< 0.05) respectively. Moreover, combinedHER1K497 andHER2V655 variant was detected in 26.6% malignant in comparison to 8.14% of control group (OR=4.1, 95% CI 1.58–10.57), but, no significant association was noticed between both Polymorphisms and clinicopathological features of the disease. As regard HER2 immunohistochemical expression no significant correlation was revealed with HER2 655V polymorphism.CONCLUSIONS: Our findings suggest thatHER1497K andHER2655V polymorphisms are potential risk factor for development of breast cancer.
Highlights
Enormous number of researches has been focused on identification of genetic predisposition to different complex diseases cancer
All of the samples were subjected to analyses for two gene polymorphisms Human Epidermal growth factor receptor1 (HER1) R497K, and HER2 I655V by using RFLP followed by agarose gel electrophoresis
Tissue samples of 18 cases were available for immunohistochemical analysis for HER2 protein expression
Summary
Enormous number of researches has been focused on identification of genetic predisposition to different complex diseases cancer. Polymorphism of the genes of Human Epidermal growth factor receptor (HER1) and receptor (HER2) have been reported to be linked to pathogenesis of several malignant tumors but still there is contradiction regarding their association with breast cancer. OBJECTIVE: In this case control study we aimed to analyze the frequency of HER1 R497K (rs 11543848) and HER2 I655V (rs 1136201) Polymorphisms in breast cancer. Combined HER1K497 and HER2 V655 variant was detected in 26.6% malignant in comparison to 8.14% of control group (OR = 4.1, 95% CI 1.58–10.57), but, no significant association was noticed between both Polymorphisms and clinicopathological features of the disease. CONCLUSIONS: Our findings suggest that HER1 497K and HER2 655V polymorphisms are potential risk factor for development of breast cancer
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