Abstract 1116: Evaluation of mitochondrial DNA G10398A polymorphism in Iranian breast cancer patients

Introduction: The role of mtDNA alteration is already recognized as being in carcinogenesis, tumor progression and prognosis in all type of cancers. mtDNA alteration in complex I have been reported in different cancers. An A to G polymorphism at nucleotide position 10398 caused a nonconservative amino acid substitution from threonine to alanine within the NADH dehydrogenase (ND3) subunit of Complex I. The mitochondrial DNA 10398 polymorphism G10398A within ND3 subunit of Complex I has been suggested to alter the mitochondrial subunit of electron transfer chain and has been associated with several neurodegenerative disorders and cancers. It has been also shown that mtDNA alteration G10398A within ND3 subunit of Complex I in breast cancer patients correlated with increased breast cancer risks in the Indian and African-American populations however, the 10398A allele was not increase breast cancer risk for Caucasian women. Interestingly, G10398A in Chinese population were shown correlated with breast cancer metastasis. The aim of this study was on the association of mtDNA G10398 A polymorphism in Iranian breast cancer patients. Materials and Methods: Patients and tissue specimens: 27 paired Fresh tumor and adjacent normal samples were obtained from consecutive patients with BC (age range, 33-74years; with median age of 49.16 years) who underwent surgery for a partial and or whole mama mastroctomy between October 2007 and Nov 2009 from IRANIAN National Tumor Bank, National Cancer Institute, Imam Khomeini Hospital Complexes, Medical Tehran University, Tehran, Iran. Histopathological examinations were performed by two expert9s pathologists. Mutational analysis of mtDNA G10398A in tumor samples: fresh tumors and their adjacent were extracted for genomic DNA using the QIAamp Mini Kit (Qiagen in accordance with the manufactures instructions. We searched for 10398 Polymorphism in within ND3 subunit of Complex I by means of PCR sequencing. Result and conclusion:patient had histopathological grade I, II, and III with 66.6%, 25.9% and 7.4% respectively. The frequency of mtDNA G10398A polymorphism 44.440%(12 of 27).The Iranian women with G10398A variant showed a significantly increased risk of breast cancer (p Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 1116. doi:1538-7445.AM2012-1116