Facile whole mitochondrial genome resequencing from nipple aspirate fluid using MitoChip v2.0

Jakupciak, John P.; Maggrah, Andrea; Maragh, Samantha; Maki, Jennifer; Reguly, Brian; Maki, Katrina; Wittock, Roy; Robinson, Kerry; Wagner, Paul D.; Thayer, Robert E.; Gehman, K; Gehman, T; Srivastava, Sudhir; Ngom, Alioune; Dakubo, Gabriel D.; Parr, Ryan

doi:10.1186/1471-2407-8-95

Cited by 26 publications

(18 citation statements)

References 29 publications

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“…The presence of mtDNA mutations in stem cells indicates that mutations actually develop prior to development of colon cancer, though it is yet to be established whether these mutations actually cause malignancy. Following the mtDNA analysis in colon cancer (26), numerous somatic mtDNA sequence variants using a whole genome approach were reported in various cancers including bladder (36), breast(62, 63), esophagus (62), head and neck (64–66), leukemia (47), lung (67), and thyroid cancers (refs. 68–70; Table 2).…”

Section: Mtdna Mutations In Human Cancersmentioning

confidence: 99%

Mitochondrial Subversion in Cancer

Chatterjee

Dasgupta

Sidransky³

2011

Cancer Prevention Research

167

165

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Mitochondria control essential cellular activities including generation of ATP via oxidative phosphorylation. Mitochondrial DNA (mtDNA) mutations in the regulatory D-loop region and somatic mtDNA mutations are common in primary human cancers. The biological impact of a given mutation may vary, depending on the nature of the mutation and the proportion of mutant mtDNAs carried by the cell. Identification of mtDNA mutations in precancerous lesions supports their early contribution to cell transformation and cancer progression. Introduction of mtDNA mutations in transformed cells has been associated with increased ROS production and tumor growth. Studies reveal that increased and altered mtDNA plays a role in the development of cancer but further work is required to establish the functional significance of specific mitochondrial mutations in cancer and disease progression. This review offers some insight into the extent of mtDNA mutations, their functional consequences in tumorigenesis, mitochondrial therapeutics, and future clinical application.

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Section: Mtdna Mutations In Human Cancersmentioning

confidence: 99%

Mitochondrial Subversion in Cancer

Chatterjee

Dasgupta

Sidransky³

2011

Cancer Prevention Research

167

165

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“…In other work, NAF was successfully retrieved from 82% of the participants with 96% yielding fluid from both breasts [20]. Given that the alterations displayed by the mtGenome demonstrate a field effect in breast tissue, there is merit in assessing NAF or DL recovered from women with both DCIS and IBC histopathologies.…”

Section: Discussionmentioning

confidence: 99%

“…This applies to other abnormal breast histopathologies as well, such as atypical ductal hyperplasia. Both NAF and DL have been investigated as a source of biomarkers and for biological indications of breast cancer [16, 20–31]. Given the high copy number of the mtGenome and its rapid mutation rate, sequence analysis of the D-loop may identify mutations associated with these lesions in glandular organ-associated biofluids which are low in both volume and cellularity.…”

Section: Discussionmentioning

confidence: 99%

Paired Ductal CarcinomaIn Situand Invasive Breast Cancer Lesions in the D-Loop of the Mitochondrial Genome Indicate a Cancerization Field Effect

Maggrah¹,

Robinson²,

Creed³

et al. 2013

BioMed Research International

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Alterations in the mitochondrial genome have been chronicled in most solid tumors, including breast cancer. The intent of this paper is to compare and document somatic mitochondrial D-loop mutations in paired samples of ductal carcinoma in situ (DCIS) and invasive breast cancer (IBC) indicating a potential breast ductal epithelial cancerization field effect. Paired samples of these histopathologies were laser-captured microdissected (LCM) from biopsy, lumpectomy, and mastectomy tissues. Blood samples were collected as germplasm control references. For each patient, hypervariable region 1 (HV1) in the D-loop portion of the mitochondrial genome (mtGenome) was sequenced for all 3 clinical samples. Specific parallel somatic heteroplasmic alterations between these histopathologies, particularly at sites 16189, 16223, 16224, 16270, and 16291, suggest the presence of an epithelial, mitochondrial cancerization field effect. These results indicate that further characterization of the mutational pathway of DCIS and IBC may help establish the invasive potential of DCIS. Moreover, this paper indicates that biofluids with low cellularity, such as nipple aspirate fluid and/or ductal lavage, warrant further investigation as early and minimally invasive detection mediums of a cancerization field effect within breast tissue.

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“…Detection of mtDNA alterations offers the advantage of allowing low invasive methods, including analysis in urine for bladder cancer or saliva for head and neck cancers [70]. Also, screening tools such as MitoChip oligonucleotide arrays [175] make it possible to screen for many factors at the same time.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Markers for Cancer: Relevance to Diagnosis, Therapy, and Prognosis and General Understanding of Malignant Disease Mechanisms

Paepe

2012

ISRN Pathology

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Cancer cells display changes that aid them to escape from cell death, sustain their proliferative powers, and shift their metabolism toward glycolytic energy production. Mitochondria are key organelles in many metabolic and biosynthetic pathways, and the adaptation of mitochondrial function has been recognized as crucial to the changes that occur in cancer cells. This paper zooms in on the pathologic evaluation of mitochondrial markers for diagnosing and staging of human cancer and determining the patients’ prognoses.

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Facile whole mitochondrial genome resequencing from nipple aspirate fluid using MitoChip v2.0

Cited by 26 publications

References 29 publications

Mitochondrial Subversion in Cancer

Mitochondrial Subversion in Cancer

Paired Ductal CarcinomaIn Situand Invasive Breast Cancer Lesions in the D-Loop of the Mitochondrial Genome Indicate a Cancerization Field Effect

Mitochondrial Markers for Cancer: Relevance to Diagnosis, Therapy, and Prognosis and General Understanding of Malignant Disease Mechanisms

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