title: Mitochondrial genome variations in advanced stage breast cancer: a case-control study.
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.
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, India.
authors.forename: Nageswara Rao
authors.initials: NR
authors.lastname: Tipirisetti
authors.forename: Rao K
authors.initials: RK
authors.lastname: Lakshmi
authors.forename: Suresh
authors.initials: S
authors.lastname: Govatati
authors.forename: Sowdamani
authors.initials: S
authors.lastname: Govatati
authors.forename: Sugunakar
authors.initials: S
authors.lastname: Vuree
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.forename: Digumarti
authors.initials: D
authors.lastname: Raghunadha Rao
authors.forename: Manjula
authors.initials: M
authors.lastname: Bhanoori
authors.forename: Satti
authors.initials: S
authors.lastname: Vishnupriya
mesh_terms: D001943:Breast Neoplasms / Q000473:pathology*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D005260:Female; D054629:Genome, Mitochondrial; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007194:India; D008928:Mitochondria / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial