Related Experiment Video

Updated: Mar 19, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

1.4K

Spectrum of Gene Mutations in Colorectal Cancer: Implications for Treatment

Rodrigo Dienstmann1, Josep Tabernero

  • 1From the *Medical Oncology Department, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain; and †Sage Bionetworks, Fred Hutchinson Cancer Research Center, Seattle, WA.

Cancer Journal (Sudbury, Mass.)
|June 25, 2016
PubMed

Insights

Identifying gene mutations in metastatic colorectal cancer (CRC) is crucial for effective treatment. Testing for KRAS, NRAS, BRAF V600E, and RNF43 mutations guides targeted therapies and immune checkpoint inhibitors.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Gene mutations drive colorectal cancer progression, particularly in the metastatic stage.
  • KRAS and NRAS mutations confer resistance to anti-epidermal growth factor receptor (EGFR) therapies.
  • Extended RAS testing is essential for selecting appropriate anti-EGFR treatment.

Purpose of the Study:

  • To review the evolving landscape of targetable gene alterations in metastatic colorectal cancer.
  • To highlight the role of genetic profiling in guiding personalized treatment strategies.
  • To discuss emerging biomarkers for targeted therapies and immune checkpoint inhibitors.

Main Methods:

  • Review of current literature on gene mutations in metastatic colorectal cancer.
  • Analysis of genetic alterations associated with resistance and sensitivity to therapies.
  • Discussion of validated and emerging predictive biomarkers.

Main Results:

  • KRAS and NRAS mutations identify patients unresponsive to anti-EGFR antibodies.
  • ERBB2 amplifications, BRAF V600E, and RNF43 mutations are validated or promising therapeutic targets.
  • Microsatellite instable hypermutated colorectal cancer shows sensitivity to immune checkpoint inhibitors.

Conclusions:

  • Genetic profiling is essential for optimizing treatment selection in metastatic colorectal cancer.
  • Advances in understanding gene alterations expand therapeutic options beyond anti-EGFR therapy.
  • Targeted therapies matched to specific gene alterations offer improved outcomes for CRC patients.

More Related Videos

Competing-Risk Nomogram for Predicting Cancer-Specific Survival in Multiple Primary Colorectal Cancer Patients after Surgery06:46

Competing-Risk Nomogram for Predicting Cancer-Specific Survival in Multiple Primary Colorectal Cancer Patients after Surgery

Published on: September 27, 2024

995
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

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

Published on: September 20, 2016

25.2K

Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
65
Cancer02:18

Cancer

Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
55.4K
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...
15.4K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

3.2K
Treatment Resistant Cancers02:56

Treatment Resistant Cancers

Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...
3.9K
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...
10.0K