Association of mitochondrial DNA 10398 polymorphism with breast cancer and apoptosis in Malay population.

Polimorfisma 10398 mitokondria DNA telah didapati berkait dengan kanser payu dara dalam beberapa populasi. Dalam kajian ini, polimorfisma 10398 mitokondria DNA telah disaring pada 101 pesakit kanser payu dara wanita Melayu dan 90 wanita yang sihat sebagai kawalan dengan menggunakan kaedah penjujukan mini. Hasil menunjukkan perbezaan statistik yang signifikan dengan nilai P, p = 0.007 (OR, 2.29; 95% CI, 2.252- 4.200) dengan jumlah varian G lebih tinggi (73%) daripada varian A (27%) dalam pesakit dan juga dalam kawalan (G = 54%, A = 46%). Tisu kanser payudara kemudian dianalisis menggunakan kaedah immunohistokimia bagi mengkaji perkaitan polimorfisma ini dalam mempengaruhi aras apoptosis sel. Tiada perbezaan signifikan didapati antara aras pengekspresan protein pro (Bax) dan anti (Bcl-2) apoptosis antara pesakit yang membawa varian A ( p = 0.48). Bagaimanapun, terdapat perkaitan yang signifikan antara proteinprotein ini dalam pesakit yang mempunyai varian G (p = 0.016). Hasil ini menunjukkan polimorfisma 10398 mtDNA mungkin berguna sebagai penanda risiko kanser payu dara dalam populasi ini. The mitochondrial DNA 10398 polymorphism has been observed to associate with breast cancer in several populations. In this study, mitochondrial DNA 10398 polymorphism was screened in 101 Malay female patients with invasive breast cancer and 90 age-matched healthy female controls using minisequencing method. The results showed a statistically significant difference with P value of p = 0.007 (OR, 2.29; 95% CI, 1.252-4.200) with the proportion of G variant was higher (73%) than A variant in patients (27%) as well as in controls (G = 54%, A = 46%). The breast cancer tissues were then analyzed using immunohistochemistry method to investigate the relation of this polymorphism in affecting apoptotic level in breast cancer. No significant difference was observed between the expression of pro (Bax) and anti-apoptotic (Bcl-2) proteins among patients carrying A variant (p = 0.48). However, significant difference was observed in patients with G variant (p = 0.016). These results indicate that mtDNA 10398 polymorphism may be useful as a breast cancer risk marker in this population