Related Experiment Video

Updated: Apr 18, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.3K

Novel recurrently mutated genes in African American colon cancers

Kishore Guda1, Martina L Veigl2, Vinay Varadan3

  • 1Division of General Medical Sciences-Oncology, Case Comprehensive Cancer Center, and Department of Medicine.

Proceedings of the National Academy of Sciences of the United States of America
|January 14, 2015
PubMed

Insights

African American colorectal cancer (CRC) genomes harbor unique mutations in 20 new genes. Specific genes like EPHA6 and FLCN are key drivers, highlighting ethnic differences in cancer development.

Area of Science:

  • Genomics
  • Oncology
  • Cancer Research

Background:

  • Colorectal cancer (CRC) exhibits significant health disparities among different ethnicities.
  • Understanding the genetic underpinnings of CRC in diverse populations is crucial for targeted therapies.

Purpose of the Study:

  • To identify novel somatic mutations in colorectal cancer (CRC) specific to African American patients.
  • To compare the mutational landscape of CRC between African American and Caucasian populations.
  • To pinpoint potential driver genes in African American CRC.

Main Methods:

  • Whole-exome and targeted sequencing were employed to analyze tumor genomes.
  • Somatic mutations were characterized in 103 African American CRC samples.
  • 129 Caucasian CRC samples were resequenced for comparative analysis.

Main Results:

  • Twenty new significantly mutated genes were identified in African American CRCs.
  • A distinct set of 15 genes showed preferential mutation in African American CRCs compared to Caucasians.
  • Mutations in EPHA6 and FLCN were found exclusively in African American CRCs, suggesting they are likely driver genes.

Conclusions:

  • Significant ethnic-specific differences exist in the mutational landscape of colorectal cancer.
  • Novel genes, including EPHA6 and FLCN, are implicated as potential drivers in African American CRC.
  • These genetic disparities may contribute to observed differences in cancer behavior and outcomes.
Keywords:
African AmericanCaucasiancolon cancermutationnext-generation sequencing

More Related Videos

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

12.8K
Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology11:20

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Published on: March 21, 2018

11.6K

Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
15.9K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

3.6K
The Ras Gene02:38

The Ras Gene

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...
7.6K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
10.5K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

3.1K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
12.2K