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Related Concept Videos

Genetic Variation01:25

Genetic Variation

241
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Histone Variants at the Centromere02:30

Histone Variants at the Centromere

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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The Ras Gene02:38

The Ras Gene

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The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
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Pleiotropy01:33

Pleiotropy

38.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Tumor Progression02:07

Tumor Progression

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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
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Related Experiment Video

Updated: May 16, 2025

Sequencing Small Non-coding RNA from Formalin-fixed Tissues and Serum-derived Exosomes from Castration-resistant Prostate Cancer Patients
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Racial variation in the advanced prostate cancer genome.

Emily M Feng1,2, Jenny Vo-Phamhi1,3, Aishwarya N Subramanian1,2

  • 1Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.

Prostate Cancer and Prostatic Diseases
|March 31, 2025
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Summary

African American prostate cancer patients show distinct tumor biology, with differences in gene expression and DNA alterations compared to European American patients, despite similar survival outcomes. This highlights the need for diverse genomic studies.

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Area of Science:

  • Genomic medicine
  • Oncology
  • Cancer genomics

Background:

  • Racial disparities in metastatic castration-resistant prostate cancer (mCRPC) genomic profiles remain understudied.
  • Investigating transcriptomic, mutational, and clinical variations by race is crucial for understanding mCRPC heterogeneity.

Purpose of the Study:

  • To analyze racial differences in gene expression, DNA alterations, and clinical outcomes in a large mCRPC cohort.
  • To identify distinct tumor biology between African American and European American mCRPC patients.

Main Methods:

  • Aggregated genomic and clinicopathologic data from four mCRPC tumor biopsy cohorts.
  • Performed gene set enrichment analyses to compare pathway-level gene expression by race.
  • Compared DNA alteration frequencies of driver genes and clinical outcomes across racial groups.

Main Results:

  • African American mCRPC patients exhibited higher MYC pathway gene expression and lower expression of inflammatory and IFN-γ, IL-6/JAK/STAT3 pathways.
  • TMPRSS2:ERG gene fusions were more frequent in European American patients (41%) than African American patients (11%).
  • No significant differences in overall survival were observed across racial groups in this cohort.

Conclusions:

  • mCRPC in African Americans displays distinct tumor biology, including differences in driver gene pathways and DNA alterations, despite similar clinical outcomes.
  • Observed racial variations in IFN-γ and JAK/STAT pathways suggest potential therapeutic targets.
  • Emphasizes the critical need for racial diversity in future prostate cancer genomic profiling and clinical trials.