TY - JOUR
T1 - Mitochondrial DNA variants and risk of familial breast cancer
T2 - An exploratory study
AU - Tommasi, Stefania
AU - Favia, Paola
AU - Weigl, Stefania
AU - Bianco, Angelica
AU - Pilato, Brunella
AU - Russo, Luciana
AU - Paradiso, Angelo
AU - Petruzzella, Vittoria
PY - 2014
Y1 - 2014
N2 - To assess if mitochondrial DNA (mtDNA) vari- 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.
AB - To assess if mitochondrial DNA (mtDNA) vari- 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.
KW - BRCA1
KW - BRCA2
KW - D-loop
KW - Hereditary breast cancer
KW - Mitochondrial DNA
KW - MTND4
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U2 - 10.3892/ijo.2014.2324
DO - 10.3892/ijo.2014.2324
M3 - Article
C2 - 24603941
AN - SCOPUS:84899115223
SN - 1019-6439
VL - 44
SP - 1691
EP - 1698
JO - International Journal of Oncology
JF - International Journal of Oncology
IS - 5
ER -