title: Mitochondrial DNA variants and risk of familial breast cancer: an exploratory study.
abstract: To assess if mitochondrial DNA (mtDNA) variants are associated with mutations in BRCA susceptibility genes and to investigate the possible role of mitochondrial alterations as susceptibility markers in familial breast cancer (BC), 22 patients with or without BRCA1/BRCA2 mutations, 14 sporadic BC patients and 20 healthy subjects were analyzed. In the D-loop and in the MTND4 region, variants significantly associated with BRCA1 carriers were identified. Moreover, examination of mitochondrial haplogroups revealed X as the most significantly frequent haplogroup in BRCA1 carriers (P=0.005), and H as significantly linked to BRCA2 carriers (P=0.05). Our data suggest the involvement of the mitochondrial genome in the pathogenetic and molecular mechanism of familial BC disease.
authors.affiliation: National Cancer Research Centre, Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Tommasi
authors.affiliation: Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Favia
authors.affiliation: National Cancer Research Centre, Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Weigl
authors.affiliation: Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.
authors.forename: Angelica
authors.initials: A
authors.lastname: Bianco
authors.affiliation: National Cancer Research Centre, Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Brunella
authors.initials: B
authors.lastname: Pilato
authors.affiliation: Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.
authors.forename: Luciana
authors.initials: L
authors.lastname: Russo
authors.affiliation: National Cancer Research Centre, Istituto Tumori 'Giovanni Paolo II', Bari, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Paradiso
authors.affiliation: Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Petruzzella
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009245:NADH Dehydrogenase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D004272:DNA, Mitochondrial; C098483:NADH dehydrogenase subunit 4; D009245:NADH Dehydrogenase