Material and methods Patient selection Breast tumour and normal tissues were collected from 78 breast cancer patients selected from the files of the Department of Pathology at the University Health Network Toronto, Canada between and The final sample size is , as indicated in Supplementary Table 1. Please try again shortly. As seen in Table 1 , somatic mutations defined as different mtDNA sequences between tumour and normal tissue occurred in J Natl Cancer Inst.

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Microsatellite instability in mitochondrial genome of common female cancers.

Mitochondrial D310 mutations in the early development of breast cancer

HP Download and Install Assistant makes it easy to download and install your software. Mitochondrial C-tract alteration in premalignant lesions of the head and neck: Polymorphisms in the D sequence in a normal human population consist of variations in the number of cytosine repeats, which range most commonly between seven and nine cytosine repeats Ha et al For these cases, additional normal tissues further away from the tumour were selected and these were considered as the actual controls in the paired analyses.

A bp fragment of the D-loop including the D sequence was amplified and sequenced as described previously Legras et al Finally, field cancerisation has been observed in breast cancer and it is a postulated explanation for the occurrence of D mutations in normal epithelium adjacent to tumours. Choose ‘Refresh’ to update the list. To confirm the sequences from these samples, two independent microdissection and amplification experiments were performed.


The list of recommended drivers for your product has not changed since the last time you visited this page. Field cancerization in oral stratified squamous epithelium; clinical implications of multicentric origin.

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Specific D sequences were more frequently identified in tumour samples It has been ntework as a marker for early tumour progression in head and neck cancer Ha et netdork Interestingly, identical D-loop sequences have been identified in pre-malignant and malignant lesions negwork the prostate and esophagus Jeronimo et al; Miyazono et al The shortest distance between tumour and the adjacent normal tissue showing this phenomenon was measured under a microscope by a pathologist SJD on hematoxylin- and eosin-stained slides.

The decrease in mtDNA content in breast cancer may consequently increase mitochondrial genomic instability, causing alterations in energy metabolism and promoting tumour development Lu et al Europe, Middle East, Africa. HP Download and Install Assistant. Please make a different selection, or visit the product homepage. National Center for Biotechnology InformationU.

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Please verify your product is powered on and connected, then try again in a few c310. In conclusion, our study has showed that mitochondrial D mutations are an early genetic event in the carcinogenesis of breast cancer, and probably occur before DCIS transitioning to IDC. This suggests a field of genetically altered cells, thus D mutations could represent a potential marker for the clonal expansion of premalignant breast cancer cells.


Drivers may be in development so please check back at a later date or visit the product homepage. Select your operating system and versionChange Detected operating system: These mutations can be used as markers of clonal growth of precancerous cells Ha et al Mutations affecting all copies of the mtDNA were defined as homoplasmic, c310 those which were present only in a proportion of copies of mtDNA were defined as heteroplasmic.

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Genomic differences between pure ductal carcinoma in situ of the breast and that associated with hetwork disease: The multistep development model of breast cancer involves the progression from premalignant hyperplastic lesions, to pre-invasive carcinoma ductal carcinoma in situ DCISnetwlrk invasive ductal carcinoma IDC.

A mutation was scored when the D allele in tumour differed from the allele found in its matched normal sample. Let HP identify any out-of-date or missing drivers and software.

Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis. This article has been cited by other articles in PMC.

As D mutations occur at high frequency in pre-malignant lesions, it is important to consider whether they have a causative role in breast carcinogenesis.