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Diagnostic implications of intrapatient genetic tumor heterogeneity

Ana P Berbegall1, Samuel Navarro1, Rosa Noguera1

  • 1Pathology Department, Medical School, University of Valencia, INCLIVA Institute , Valencia, Spain.

Molecular & Cellular Oncology
|June 17, 2016
PubMed

Keywords:
Heterogeneous MYCN amplificationheterogeneous segmental chromosome aberrationintratumoral genetic heterogeneityneuroblastomaspatial intrapatient genetic heterogeneitytemporal genetic heterogeneity

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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