Related Experiment Video

Updated: Jul 6, 2026

In Vivo CRISPR/Cas9 Screening to Simultaneously Evaluate Gene Function in Mouse Skin and Oral Cavity
07:52

In Vivo CRISPR/Cas9 Screening to Simultaneously Evaluate Gene Function in Mouse Skin and Oral Cavity

Published on: November 2, 2020

PIK3CA, HRAS and KRAS gene mutations in human penile cancer

Patiyan Andersson1, Aleksandra Kolaric, Torgny Windahl

  • 1Division of Cell Biology, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden. patan@ibk.liu.se <e-mail:patan@ibk.liu.se>

The Journal of Urology
|March 22, 2008
PubMed
Abstract

Insights

Somatic mutations in phosphatidylinositol 3-kinase (PIK3CA) and Ras (HRAS, KRAS) pathways are frequent in penile cancer. These genetic alterations are significant drivers for penile carcinoma development and progression.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Penile cancer is a rare malignancy with limited understanding of its underlying genetic landscape.
  • Somatic mutations in key signaling pathways are crucial for cancer development.

Purpose of the Study:

  • To investigate the frequency and spectrum of mutations in the phosphatidylinositol 3-kinase (PI3K) and Ras signaling pathways in penile cancer.
  • To identify specific genes within these pathways that are dysregulated in penile tumors.

Main Methods:

  • Mutational analysis of PIK3CA, PTEN, HRAS, KRAS, NRAS, and BRAF genes.
  • Utilized single-stranded conformational analysis and direct sequencing techniques.
  • Analyzed a cohort of 28 penile tumor samples.

Main Results:

  • Somatic mutations were identified in 39% of penile cancer samples.
  • PIK3CA mutations (E542K, E545K) were found in 29% of tumors across all grades and stages.
  • HRAS and KRAS mutations (G12S, Q61L) were observed in 7% and 3% of tumors, respectively, and were associated with advanced stages.

Conclusions:

  • Dysregulation of the PI3K and Ras pathways, driven by mutations in PIK3CA, HRAS, and KRAS, plays a significant role in penile cancer.
  • The observed mutual exclusivity of mutations suggests that alterations in either pathway are sufficient for tumorigenesis.

More Related Videos

In Vitro Establishment of a Genetically Engineered Murine Head and Neck Cancer Cell Line using an Adeno-Associated Virus-Cas9 System05:45

In Vitro Establishment of a Genetically Engineered Murine Head and Neck Cancer Cell Line using an Adeno-Associated Virus-Cas9 System

Published on: January 9, 2020

Related Concept Videos

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 superfamily...
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 superfamily...
Small GTPases - Ras and Rho01:24

Small GTPases - Ras and Rho

Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
Three regulatory proteins control their activity:
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
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...
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...