Mitochondrial genome variations in advanced stage breast cancer: a case-control study.

Autor: Tipirisetti NR; Department of Genetics, Osmania University, Hyderabad, India., Lakshmi RK, Govatati S, Govatati S, Vuree S, Singh L, Raghunadha Rao D, Bhanoori M, Vishnupriya S
Jazyk: angličtina
Zdroj: Mitochondrion [Mitochondrion] 2013 Jul; Vol. 13 (4), pp. 372-8. Date of Electronic Publication: 2013 Apr 26.
DOI: 10.1016/j.mito.2013.04.010
Abstrakt: Entire mitochondrial DNA (mtDNA) sequencing was carried out in 101 primary breast cancer patients and 90 controls of south Indian origin. We identified 69 novel mutations in breast cancer patients and 637 reported polymorphisms in patients and/or controls. PolyPhen-2 analysis predicted 5 out of 14 novel missense mutations as 'probably damaging variants'. Haplogrouping analysis identified a significant association between haplogroup M5 and breast cancer risk. Microsatellite instability and tumor specific large scale mtDNA deletions were not observed in tumor tissues from the patients. In conclusion, mtDNA mutations and haplogroups may constitute an inheritable risk factor for pathogenesis of breast cancer.
(Copyright © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved. All rights reserved.)
Databáze: MEDLINE
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