- 作者: Man Yu; Yurong Shi; Fei Zhang; Yunli Zhou; Yi Yang; Xiyin Wei; Lin Zhang; Ruifang Niu
- 作者服務機構: State Key Laboratory of Breast Cancer Prevention andTreatment, Cancer Hospital and Institute, Tianjin MedicalUniversity, P.R. China; Center for Advanced Research in Environmental Genomics(CAREG), University of Ottawa, Canada; Department of Cellular and Molecular Medicine, University ofOttawa, Canada
- 中文摘要: --
- 英文摘要: Mitochondrial DNA (mtDNA) is known for itshigh frequencies of polymorphisms and mutations. Thenon-coding displacement (D)-loop, especially a mononucleotiderepeat (poly-C) between 303 and 315 nucleotides(D310), has been recently identified as a frequent hotspot ofmutations in human neoplasia, including breast cancer. Tofurther explore the sequence variations of mitochondrial Dloopregion in familial breast cancer and their possibleassociations with breast cancer risk, PCR-SSCP and directDNA sequencing methods were used to detect the variantsof the mtDNA D-Loop in 23 familial breast cancer patientsas well as three high-risk cancer families. Compared to thatin sporadic breast tumors (53.3%, 16/30) and healthy blooddonors (6.7%, 2/30), we identified a total of 126 sequencealterations in 23/23 (100%) of familial breast cancerpatients, including eight novel nucleotide variants. Amongthese changes, A to G at nt.263, T to C at nt.489, T to C atnt.310, TC insertion at nt.311, CA deletion at nt.522, and Cto G at nt.527 were highly frequent ones. In addition, amongthree high-risk cancer families, we found that individualsaffected with breast cancer harbored more mtDNAsequence variants in mtDNA D310 area than other affectedfamily members. Together, our data indicate that sequencevariants within the mtDNA D-Loop region are frequentevents in Chinese familial breast cancer patients. Some ofthese nucleotide abnormalities, particularly those in D310segment, might be involved in the breast carcinogenesis andcould be included in a panel of molecular biomarkers forcancer susceptibility early-detection strategy.
- 中文關鍵字: --
- 英文關鍵字: D-loop; Familial breast cancer; mtDNA; Mutation