|
|||||
|
|
Mitochondrial genome variations in advanced stage breast cancer: A case–control study |
|
| Authors: | Nageswara Rao Tipirisetti Rao K Lakshmi Suresh Govatati Sowdamani Govatati Sugunakar Vuree Lalji Singh Digumarti Raghunadha Rao Manjula Bhanoori Satti Vishnupriya |
| Institution: | 1. Department of Genetics, Osmania University, Hyderabad, India;2. Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India;3. Department of Biochemistry, Osmania University, Hyderabad, India;4. Department of Zoology, Acharya Nagarjuna University, Guntur, India;5. Nizam''s Institute of Medical Sciences, Hyderabad, India |
| Abstract: | 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. |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ | |