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Malaysian Journal of Medical Sciences
School of Medical Sciences, Universiti Sains Malaysia
ISSN: 1394-195X
Vol. 19, No. 1, 2012, pp. 36-42
Bioline Code: mj12006
Full paper language: English
Document type: Research Article
Document available free of charge

Malaysian Journal of Medical Sciences, Vol. 19, No. 1, 2012, pp. 36-42

 en Association of Mitochondrial DNA 10398 Polymorphism in Invasive Breast Cancer in Malay Population of Peninsular Malaysia
Nadiah, Tengku Baharudin; Hasnan, Jaafar & Zafarina, Zainuddin


Background: The mitochondrial DNA (mtDNA) 10398 polymorphism is hypothesised to alter a mitochondrial subunit of the electron transfer chain and is associated with several neurodegenerative disorders and cancers.
Methods: In this study, an mtDNA polymorphism at nucleotide position 10398 was screened in 101 Malay female patients with invasive breast cancer and 90 age-matched healthy female controls using minisequencing analysis.
Results: The Malay women with the 10398G variant showed a significantly increased risk of invasive breast cancer (OR = 2.29, 95% CI 1.25–4.20, P = 0.007). Immunohistochemistry analysis was conducted to investigate the effect of this polymorphism on the levels of apoptosis in breast cancer cells. The level of Bax (a pro-apoptotic protein) expression was significantly higher than that of Bcl-2 (an anti-apoptotic protein) in patients carrying the G allele (P = 0.016) but not in those carrying the A allele (P = 0.48).
Conclusion: Based on these findings, we propose that the mtDNA 10398 polymorphism may be a potential risk marker for breast cancer susceptibility in the Malay population.

breast cancer, DNA sequencing, genetic marker, mitochondrial DNA, oncology, single nucleotide polymorphism

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