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Tandem Repeat Variation

MedGen UID:
354240
•Concept ID:
C1710347
•
Cell or Molecular Dysfunction
Synonym: Variable Number Tandem Repeat

Definition

An inherited polymorphism in eukaryotic DNA that results from variations in the number of tandem repeat nucleotide sequences, which are end-to-end adjacent copies of a short (2 to 60 nucleotides) DNA sequence located between two restriction endonuclease recognition sites. These are referred to as variable number of tandem repeats (VNTR), and the number of alleles at these loci can vary from 2 to more than 20. VNTRs provide important genetic information that is used to identify an individual via the DNA fingerprinting technique. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTandem Repeat Variation

Professional guidelines

PubMed

The impact of genetic variation in DRD2 and SLC6A3 on smoking cessation in a cohort of participants 1 year after enrollment in a lung cancer screening study.
Styn MA, Nukui T, Romkes M, Perkins K, Land SR, Weissfeld JL
Am J Med Genet B Neuropsychiatr Genet 2009 Mar 5;150B(2):254-61. doi: 10.1002/ajmg.b.30801. PMID: 18563706Free PMC Article

Recent clinical studies

Etiology

Rediscovering tandem repeat variation in schizophrenia: challenges and opportunities.
Birnbaum R
Transl Psychiatry 2023 Dec 20;13(1):402. doi: 10.1038/s41398-023-02689-8. PMID: 38123544Free PMC Article
WebSTR: A Population-wide Database of Short Tandem Repeat Variation in Humans.
Lundström OS, Adriaan Verbiest M, Xia F, Jam HZ, Zlobec I, Anisimova M, Gymrek M
J Mol Biol 2023 Oct 15;435(20):168260. Epub 2023 Sep 7 doi: 10.1016/j.jmb.2023.168260. PMID: 37678708
Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation.
Martin-Trujillo A, Garg P, Patel N, Jadhav B, Sharp AJ
Genome Res 2023 Feb;33(2):184-196. Epub 2022 Dec 28 doi: 10.1101/gr.277057.122. PMID: 36577521Free PMC Article
Tandem repeat variation near the HIC1 (hypermethylated in cancer 1) promoter predicts outcome of oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.
Okazaki S, Schirripa M, Loupakis F, Cao S, Zhang W, Yang D, Ning Y, Berger MD, Miyamoto Y, Suenaga M, Iqubal S, Barzi A, Cremolini C, Falcone A, Battaglin F, Salvatore L, Borelli B, Helentjaris TG, Lenz HJ
Cancer 2017 Nov 15;123(22):4506-4514. Epub 2017 Jul 14 doi: 10.1002/cncr.30880. PMID: 28708932Free PMC Article
Evidence from Y-chromosome analysis for a late exclusively eastern expansion of the Bantu-speaking people.
Ansari Pour N, Plaster CA, Bradman N
Eur J Hum Genet 2013 Apr;21(4):423-9. Epub 2012 Aug 15 doi: 10.1038/ejhg.2012.176. PMID: 22892538Free PMC Article

Diagnosis

TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data.
Bolognini D, Magi A, Benes V, Korbel JO, Rausch T
Gigascience 2020 Oct 7;9(10) doi: 10.1093/gigascience/giaa101. PMID: 33034633Free PMC Article
The impact of genetic variation in DRD2 and SLC6A3 on smoking cessation in a cohort of participants 1 year after enrollment in a lung cancer screening study.
Styn MA, Nukui T, Romkes M, Perkins K, Land SR, Weissfeld JL
Am J Med Genet B Neuropsychiatr Genet 2009 Mar 5;150B(2):254-61. doi: 10.1002/ajmg.b.30801. PMID: 18563706Free PMC Article

Therapy

Tandem repeat variation near the HIC1 (hypermethylated in cancer 1) promoter predicts outcome of oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.
Okazaki S, Schirripa M, Loupakis F, Cao S, Zhang W, Yang D, Ning Y, Berger MD, Miyamoto Y, Suenaga M, Iqubal S, Barzi A, Cremolini C, Falcone A, Battaglin F, Salvatore L, Borelli B, Helentjaris TG, Lenz HJ
Cancer 2017 Nov 15;123(22):4506-4514. Epub 2017 Jul 14 doi: 10.1002/cncr.30880. PMID: 28708932Free PMC Article

Prognosis

Tandem repeat variation near the HIC1 (hypermethylated in cancer 1) promoter predicts outcome of oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.
Okazaki S, Schirripa M, Loupakis F, Cao S, Zhang W, Yang D, Ning Y, Berger MD, Miyamoto Y, Suenaga M, Iqubal S, Barzi A, Cremolini C, Falcone A, Battaglin F, Salvatore L, Borelli B, Helentjaris TG, Lenz HJ
Cancer 2017 Nov 15;123(22):4506-4514. Epub 2017 Jul 14 doi: 10.1002/cncr.30880. PMID: 28708932Free PMC Article

Clinical prediction guides

Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation.
Martin-Trujillo A, Garg P, Patel N, Jadhav B, Sharp AJ
Genome Res 2023 Feb;33(2):184-196. Epub 2022 Dec 28 doi: 10.1101/gr.277057.122. PMID: 36577521Free PMC Article
Tandem repeat variation near the HIC1 (hypermethylated in cancer 1) promoter predicts outcome of oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer.
Okazaki S, Schirripa M, Loupakis F, Cao S, Zhang W, Yang D, Ning Y, Berger MD, Miyamoto Y, Suenaga M, Iqubal S, Barzi A, Cremolini C, Falcone A, Battaglin F, Salvatore L, Borelli B, Helentjaris TG, Lenz HJ
Cancer 2017 Nov 15;123(22):4506-4514. Epub 2017 Jul 14 doi: 10.1002/cncr.30880. PMID: 28708932Free PMC Article
Divergent haplotypes and human history as revealed in a worldwide survey of X-linked DNA sequence variation.
Shimada MK, Panchapakesan K, Tishkoff SA, Nato AQ Jr, Hey J
Mol Biol Evol 2007 Mar;24(3):687-98. Epub 2006 Dec 14 doi: 10.1093/molbev/msl196. PMID: 17175528
Tandem repeat copy-number variation in protein-coding regions of human genes.
O'Dushlaine CT, Edwards RJ, Park SD, Shields DC
Genome Biol 2005;6(8):R69. Epub 2005 Jul 28 doi: 10.1186/gb-2005-6-8-r69. PMID: 16086851Free PMC Article

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