Mitochondrial genome variations in advanced stage breast cancer: A case–control study

Tipirisetti, Nageswara Rao; Rao, Lakshmi; Govatati, Suresh; Govatati, Sowdamani; Vuree, Sugunakar; Singh, Lalji; Rao, D. Raghunadha; Bhanoori, Manjula; Satti, Vishnupriya

doi:10.1016/j.mito.2013.04.010

Cited by 13 publications

(12 citation statements)

References 33 publications

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“…MtDNA T3197C and G13708A SNPs decrease breast cancer risk [78], and a reduced incidence of mtDNA A73G, C150T, T16183C, T16189C, C16223T, and T16362C SNPs was noted in breast cancer patients compared to database controls [87]. Recent studies have also identified multiple novel mtDNA mutations and polymorphisms in breast cancer patients [79]. Analysis of the sequence of genes encoding complex I in cancer tissues and corresponding normal tissues has led to the discovery of very rare mtDNA polymorphisms, including A4727G, G9947A, A10044G, A10283G, T11233C, and C11503T, that may have implications in breast cancer development [122].…”

Section: Germline Mtdna Mutations and Breast Tumorigenesismentioning

confidence: 99%

Mitochondrial DNA mutations and breast tumorigenesis

Yadav

Chandra

2013

Biochimica et Biophysica Acta (BBA) - Reviews on Cancer

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Breast cancer is a heterogeneous disease and genetic factors play an important role in its genesis. Although mutations in tumor suppressors and oncogenes encoded by the nuclear genome are known to play a critical role in breast tumorigenesis, the contribution of the mitochondrial genome to this process is unclear. Like the nuclear genome, the mitochondrial genome also encodes proteins critical for mitochondria functions such as oxidative phosphorylation (OXPHOS), which is known to be defective in cancer including breast cancer. Due to limited repair mechanisms compared to that for nuclear DNA (nDNA), mitochondrial DNA (mtDNA) is more susceptible to mutations. Thus changes in mitochondrial genes could also contribute to the development of breast cancer. In this review we discuss mtDNA mutations that affect OXPHOS. Continuous acquisition of mtDNA mutations and selection of advantageous mutations ultimately leads to generation of cells that propagate uncontrollably to form tumors. Since irreversible damage to OXPHOS leads to a shift in energy metabolism towards enhanced aerobic glycolysis in most cancers, mutations in mtDNA represent an early event during breast tumorigenesis, and thus may serve as potential biomarkers for early detection and prognosis of breast cancer. Because mtDNA mutations lead to defective OXPHOS, development of agents that target OXPHOS will provide specificity for preventative and therapeutic agents against breast cancer with minimal toxicity.

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Section: Germline Mtdna Mutations and Breast Tumorigenesismentioning

confidence: 99%

Mitochondrial DNA mutations and breast tumorigenesis

Yadav

Chandra

2013

Biochimica et Biophysica Acta (BBA) - Reviews on Cancer

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“…Although epidemiologic investigations have identified numerous risk factors in the origin of breast cancer, the etiology and pathogenesis remain unclear [4]. Previously, we demonstrated the correlation between single nucleotide polymorphisms (SNPs) of various candidate genes and risk of breast cancer in Indian women [5]–[8]. The emerging evidence strongly suggests that the disease has polygenic and multifactorial basis [9].…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial Control Region Alterations and Breast Cancer Risk: A Study in South Indian Population

et al. 2014

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BackgroundMitochondrial displacement loop (D-loop) is the hot spot for mitochondrial DNA (mtDNA) alterations which influence the generation of cellular reactive oxygen species (ROS). Association of D-loop alterations with breast cancer has been reported in few ethnic groups; however none of the reports were documented from Indian subcontinent.MethodologyWe screened the entire mitochondrial D-loop region (1124 bp) of breast cancer patients (n = 213) and controls (n = 207) of south Indian origin by PCR-sequencing analysis. Haplotype frequencies for significant loci, the standardized disequilibrium coefficient (D′) for pair-wise linkage disequilibrium (LD) were assessed by Haploview Software.Principal FindingsWe identified 7 novel mutations and 170 reported polymorphisms in the D-loop region of patients and/or controls. Polymorphisms were predominantly located in hypervariable region I (60%) than in II (30%) of D-loop region. The frequencies of 310‘C’ insertion (P = 0.018), T16189C (P = 0.0019) variants and 310‘C’ins/16189C (P = 0.00019) haplotype were significantly higher in cases than in controls. Furthermore, strong LD was observed between nucleotide position 310 and 16189 in controls (D′ = 0.49) as compared to patients (D′ = 0.14).ConclusionsMitochondrial D-loop alterations may constitute inherent risk factors for breast cancer development. The analysis of genetic alterations in the D-loop region might help to identify patients at high risk for bad progression, thereby helping to refine therapeutic decisions in breast cancer.

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“…Is important to remark that in our analysis the presence of T16519C, was found in near 60% of the breast cancer sequences and less than 20% of controls sequences. Other studies have focused on this polymorphism, apparently, without relation with other polymorphisms previously described in the available literature (20,(32)(33)(34)(35)38). Moreover, the association of several variants resulted in a significant predictive breast cancer factor.…”

Section: Discussionmentioning

confidence: 92%

“…However, in a metaanalysis, it has been identified that there is no association when analyzing this polymorphism individually, without correlating with other mitochondrial polymorphisms in women affected by this malignancy (35). Although in Caucasian American human groups with European descent, the A10398G substitution confers an increase in the risk of breast cancer, other polymorphisms with more statistical significance have been identified, such as the T16519C located in the control region (36)(37)(38)(39)(40)(41).…”

Section: Introductionmentioning

confidence: 99%

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Insights Breast Cancer through mitochondrial genomics

Baptista‐Rosas

Mercado-Sesma

Hernández

et al. 2019

Preprint

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Background Breast cancer has a predominant incidence and prevalence in Caucasian women. Although alterations in the mitochondrial genome probably play an important role in carcinogenesis, the actual evidence is ambiguous and inconclusive. The purpose of the present work was to determine the frequency of polymorphisms associated with breast cancer exploring mitochondrial sequences of clinical cases diagnosed from different origins reusing information available in the public free access database GenBank.Results 110 mtDNA sequences associated to breast cancer cases were identified, of which 72 sequences were complete mitochondrial chromosome and 38 partial sequences. Of these 110 identified sequences, 85 belong to patients with a confirmed diagnosis of breast cancer and 25 complete sequences were obtained from healthy mammary tissue of the same patients. In addition, we obtained 49 complete mtDNA sequences from Eskimo and Inuit individuals, a low prevalence breast cancer population, used as controls. From patients diagnosed with breast cancer, T16519C was found in 60% of the breast cancer sequences and less than 20% of controls sequences (P = 0.427). Two changes were found in D130 in all sequences analyzed, the first characterized by the insertion of base C in position 315 and, the second, a transition of cytosine by at least two cytosines and one thymine at position 309 always followed by another transition of thymine by cytosine in the position 310. ConclusionsBoth polymorphisms, T16519C and D130, are evolutionarily related to haplogroup H of Caucasian origin of Indo-European and Euro Asiatic origins. However, they were also found in all sequences of non-European origin with breast cancer. The changes in the mtDNA of patients with breast cancer are polymorphic and not associated with a few unique mutations. Genebank ID number sequencePosition in mtDNA sequence Type of Heteroplasmy

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Mitochondrial genome variations in advanced stage breast cancer: A case–control study

Cited by 13 publications

References 33 publications

Mitochondrial DNA mutations and breast tumorigenesis

Mitochondrial DNA mutations and breast tumorigenesis

Mitochondrial Control Region Alterations and Breast Cancer Risk: A Study in South Indian Population

Insights Breast Cancer through mitochondrial genomics

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