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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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  11. Single Nucleotide Polymorphisms Conferring Susceptibility To Leukemia And Oral Mucositis: A Multi-center Pilot Study Of Patients Prior To Conditioning Therapy For Hematopoietic Cell Transplant.
  1. Home
  3. Research Domains
  5. Biomedical And Clinical Sciences
  7. Oncology And Carcinogenesis
  9. Predictive And Prognostic Markers
  11. Single Nucleotide Polymorphisms Conferring Susceptibility To Leukemia And Oral Mucositis: A Multi-center Pilot Study Of Patients Prior To Conditioning Therapy For Hematopoietic Cell Transplant.

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Single nucleotide polymorphisms conferring susceptibility to leukemia and oral mucositis: a multi-center pilot study of patients prior to conditioning therapy for hematopoietic cell transplant.

Jean-Luc C Mougeot1,2, Micaela F Beckman3,4, Adam S Alexander3,4

  • 1Translational Research Laboratories, Department of Oral Medicine/Oral & Maxillofacial Surgery, Atrium Health Carolinas Medical Center, Charlotte, NC, USA. jean-luc.mougeot@atriumhealth.org.

Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in Cancer
|March 12, 2024

View abstract on PubMed

Summary
This summary is machine-generated.
Keywords:
LeukemiaNon-cancer blood disordersOral mucositisSingle nucleotide polymorphism

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This study identified single nucleotide polymorphisms (SNPs) associated with both leukemia and oral mucositis (OM). These findings may help predict susceptibility to these conditions.

Area of Science:

  • Genetics and Genomics
  • Oncology
  • Oral Medicine

Background:

  • Leukemia patients often experience oral manifestations.
  • Oral mucositis (OM) is a common side effect of cancer therapy.
  • Identifying shared genetic factors could improve patient care.

Purpose of the Study:

  • To identify single nucleotide polymorphisms (SNPs) associated with both leukemia and oral mucositis (OM).
  • To explore genetic susceptibility to developing both conditions.

Main Methods:

  • Whole exome sequencing of saliva samples from leukemia and non-cancer blood disorder (ncBD) patients.
  • Analysis of SNPs using various bioinformatics pipelines (PLINK2, MAGMA, GATK, DeepVariant).
  • Comparison of SNP data between leukemia patients with and without severe OM.
Whole exome sequencing

Main Results:

  • Identified hundreds of candidate SNPs and genes associated with leukemia and OM.
  • Found 18 genes linked to leukemia and 11 genes linked to oral mucositis.
  • Overrepresented Gene Ontology terms included 'hemopoiesis' and 'regulation of immune response'.

Conclusions:

  • Candidate SNPs conferring susceptibility to leukemia and oral mucositis were identified.
  • These genetic markers may aid in predicting patient risk for these conditions.