Zafarina, Zainuddin
(2013)
Screening and characterization of 10398a
polymorphism in invasive breast cancer in
Malay population of peninsular Malaysia.
Other.
Pusat Pengajian Sains Kesihatan.
(Submitted)
Abstract
The rnitochd~drial 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 mtDNApolymorphism 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). lnmlunohistochemistry analysis
was conducted to investigate the effect of this polymorphism on the levels of apoptosis in breast
cancer cells. The level ofBax (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.
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