Affiliations: Department of Medical Biochemistry and Molecular
Biology, Faculty of Medicine, Ain Shams University, Cairo, Egypt | Department of Pathology, Faculty of Medicine, Zagazig
University, Zagazig, Egypt
Note: [] Corresponding author: Naglaa R. AbdRaboh, Department of Medical
Biochemistry and Molecular Biology, Ain Shams Faculty of Medicine, Cairo,
Egypt. %Present address: Al Qusais-1, Dubai, United Arab Emirates, p.o.box:
20170. Tel.: +20 971 508 778 149; Fax: +20 971 554 045 467; E-mail:
[email protected]
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 of HER1 R497K (rs 11543848) and HER2 I655V (rs 1136201) Polymorphisms
in breast cancer. SUBJECT AND METHOD: The frequency of HER1 Arg(R) 497Lys (K) and HER2
Ile (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: HER1 497K and HER2 655V 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, combined HER1 K497 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. As regard HER2
immunohistochemical expression no significant correlation was revealed with
HER2 655V polymorphism. CONCLUSIONS: our findings suggest that HER1 497K and HER2 655V
polymorphisms are potential risk factor for development of breast cancer.
Keywords: HER1 gene, HER2 gene, polymorphism, HER2 protein expression, breast cancer
