ArticlePloS one2014
Mitochondrial control region alterations and breast cancer risk: a study in South Indian population.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 55 citations in OpenAlex.
- Mitochondrial DNA mutations and intercellular mitochondrial transfer in cancer: mechanisms, biological effects, and clinical potential.Biomarker research · 2026Review
- Identification of sequence polymorphism in the D-loop region of mitochondrial DNA as a risk factor for breast cancer.Cancer science · 2024Article
- Analysis of Mitochondrial Transfer RNA Mutations in Breast Cancer.Balkan journal of medical genetics : BJMG · 2023Article
- Investigating the role of mitochondrial DNA D-loop variants, haplotypes, and copy number in polycystic ovary syndrome: implications for clinical phenotypes in the Chinese population.Frontiers in endocrinology · 2023Article
- Mitochondria in tumour progression: a network of mtDNA variants in different types of cancer.BMC genomic data · 2022Article
- Research highlights on contributions of mitochondrial DNA microsatellite instability in solid cancers - an overview.Contemporary oncology (Poznan, Poland) · 2022Review
- Article
- Association between mitochondrial DNA D-loop region polymorphisms and endometriosis in a Chinese population.Journal of assisted reproduction and genetics · 2020Article
- Evaluation of non-coding region sequence variants and mitochondrial haplogroups as potential biomarkers of sporadic breast cancer in individuals of Sri Lankan Sinhalese ethnicity.Biomedical reports · 2020Article
- A Review of the Epidemiology of Breast Cancer in Asia: Focus on Risk Factors.Asian Pacific journal of cancer prevention : APJCP · 2020Review
- SNHG1 Long Noncoding RNA is Potentially Up-Regulated in Colorectal Adenocarcinoma.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors.Frontiers in oncology · 2020Article
- Polycystic ovary syndrome and mitochondrial dysfunction.Reproductive biology and endocrinology : RB&E · 2019Review
- mRNA Reprogramming of T8993G Leigh's Syndrome Fibroblast Cells to Create Induced Pluripotent Stem Cell Models for Mitochondrial Disorders.Stem cells and development · 2019Article
- ImtRDB: a database and software for mitochondrial imperfect interspersed repeats annotation.BMC genomics · 2019Article
- Mitochondrial DNA variations in tongue squamous cell carcinoma.Biomedical reports · 2019Article
- Associations of mitochondrial polymorphisms with sporadic colorectal adenoma.Molecular carcinogenesis · 2018Article
- The Novel Roles of Connexin Channels and Tunneling Nanotubes in Cancer Pathogenesis.International journal of molecular sciences · 2018Review
- Sequence variations of mitochondrial DNA D-loop region in patients with acute myeloid leukemia.Oncology letters · 2017Article
- Detection of somatic mutations in the mitochondrial DNA control region D-loop in brain tumors: The first report in Malaysian patients.Oncology letters · 2017Article
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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. METHODOLOGY: We 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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