SNPs in mitochondrial DNA coding region used to discriminate common sequences in HV1–HV2–HV3 region

Fridman, Cíntia; Cardena, M.M.S.G.; Kanto, E Anzai; Godinho, Maurício; Gonçalves, Fernanda T.

doi:10.1016/j.fsigss.2011.08.037

Cited by 5 publications

(8 citation statements)

References 4 publications

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“…The polymorphism, m.315dup, is considered to be one of the most recent mutations, occurring in the last 60,000 years. This is a type of mutation, now well accepted and detailed in many of the phylogenetic trees, which is related to haplogroup H. Although this haplogroup is related to populations of ethnic origin, it has been found to have a high prevalence in Latin American mestizos and in other populations with different haplogroups [60][61][62][63][64][65].…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Control Region Variants Related to Breast Cancer

Hernández¹,

Avalos²,

Zuñiga³

et al. 2022

Preprint

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Breast cancer has an important incidence in the worldwide female population. 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 explore mitochondrial sequences of clinical cases with breast cancer from different origins and determine the polymorphisms associated. The search for complete and partial mtDNA sequences obtained from breast cancer patients and controls was performed in NCBI Genbank database. We identified 124 mtDNA sequences associated to breast cancer cases of which 86 were complete and 38 partial sequences. Of these 86 complete sequences, 52 belong to patients with a confirmed diagnosis of breast cancer and 34 sequences were obtained from healthy mammary tissue of the same patients used as controls. From mtDNA analysis, two polymorphisms with significative statistical differences were found in D130 in sequences analyzed: m.310del (rs869289246) in 34.6% (27/78) breast cancer cases and 61.7% (21/34) of controls; and m.315dup (rs369786048) in 60.2% (47/78) of breast cancer cases and 38.2% (13/34) of controls. Also, the variant m.16519T>C (rs3937033) was found in 59% of control sequences and 52% of breast cancer sequences with a significant statistical difference. Polymorphic changes are evolutionarily related to haplogroup H of Indo-European and Euro Asiatic origins, however, were found in all non-European sequences with breast cancer.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial Control Region Variants Related to Breast Cancer

Hernández¹,

Avalos²,

Zuñiga³

et al. 2022

Preprint

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“…According to the results most of the SNPs were in the coding region, both in the cancer cases and the controls (61% and 58%, respectively). This shows the importance of whole genomic sequencing for precise haplogroup determination and the lesser value of the polymorphisms traditionally used in the hypervariable regions for forensic purposes [28, 29].…”

Section: Discussionmentioning

confidence: 99%

Potential Association of Mitochondrial Haplogroups and A8860G Mutation with Breast Cancer Risk

Hnm

Abdulkarim

2021

Preprint

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The last decade has witnessed great progresses regarding the molecular basis of breast cancer with discovery of different nuclear susceptibility genes; in addition investigations and researches regarding mitochondrial DNA (mtDNA) mutations in breast cancer have been started. Mitochondrial haplogroup determinants (single nucleotide polymorphism SNP) and somatic mitochondrial mutations have recently been studied as possible risk factors for carcinogenic processes in different tissues, hence in order to identify breast cancer related SNPs and haplogroups among the population of Sulaimaniyah city/Iraq, the entire mitochondrial genome of 20-breast cancer samples and comparable controls were sequenced. Haplogrep 2.0 was used for haplogroup identification; Chi-square and Fishers exact test were applied to assess relational significance. HV haplogroup in the cancer samples appeared to be a risk factor for breast cancer compared to the most common H haplogroup in control samples with a p-values of 0.002 and 0.006 respectively and an Odd Ratio (OR) = 28.00. Besides, SNP (A8860G) was also identified as a risk factor for breast cancer as compared to other randomly selected SNPs (A750G, A1438G and C7028T) with p values <0.05 and OR >1.

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“…This is the type of mutations, now well accepted and detailed in many of the phylogenetic trees, related to haplogroup H (56). Although this haplogroup is related to populations of ethnic origin, it has been found to have a high prevalence in Latin American mestizos and in other populations with different haplogroups (55)(56)(57)(58)(59)(60)(61).…”

Section: Discussionmentioning

confidence: 99%

“…polymorphism is associated with various forms of cancer and other chronic-degenerative diseases (53,63) This poly-C tract in the mitochondrial D-Loop located commonly between 303 and 315 nucleotides has been identified as a frequent hotspot mutation region in human neoplasia, including breast cancer (56)(57)(58), suggesting that mtDNA instability in this site may be a common characteristic in this malignant disease.…”

Section: Discussionmentioning

confidence: 99%

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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SNPs in mitochondrial DNA coding region used to discriminate common sequences in HV1–HV2–HV3 region

Cited by 5 publications

References 4 publications

Mitochondrial Control Region Variants Related to Breast Cancer

Mitochondrial Control Region Variants Related to Breast Cancer

Potential Association of Mitochondrial Haplogroups and A8860G Mutation with Breast Cancer Risk

Insights Breast Cancer through mitochondrial genomics

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