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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...
Mutagenicity and Carcinogenicity01:25

Mutagenicity and Carcinogenicity

Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
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...
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.
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...

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Related Experiment Video

Updated: May 24, 2026

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
10:57

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018

The androgen receptor gene mutations database: 2012 update.

Bruce Gottlieb1, Lenore K Beitel, Abbesha Nadarajah

  • 1Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada. bruce.gottlieb@mcgill.ca

Human Mutation
|February 16, 2012
PubMed
Summary
This summary is machine-generated.

The updated androgen receptor (AR) gene mutations database now includes over 1,000 mutations, with a focus on prostate cancer (CaP) and androgen insensitivity syndrome (AIS). A significant finding is the disconnect between AIS phenotypes and AR gene mutations in some patients.

More Related Videos

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

Related Experiment Videos

Last Updated: May 24, 2026

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
10:57

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018

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

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • The androgen receptor (AR) gene is crucial for male sexual development and function.
  • Mutations in the AR gene are associated with various conditions, including prostate cancer (CaP) and androgen insensitivity syndrome (AIS).
  • Maintaining an updated and standardized database of AR mutations is essential for research and clinical applications.

Purpose of the Study:

  • To describe the current version of the AR mutations database, highlighting significant updates and changes.
  • To report on the increased number of AR mutations, particularly those related to CaP and AIS.
  • To investigate the phenotype-genotype relationship in AIS and its implications for AR mutation detection.

Main Methods:

  • Database curation and updates adhering to Human Genome Variation Society (HGVS) nomenclature.
  • Compilation of reported AR mutations from literature and clinical cases.
  • Analysis of AR mutation prevalence in prostate cancer and androgen insensitivity syndrome cohorts.
  • Phenotype-genotype correlation analysis within a patient database.

Main Results:

  • The database now contains 1,029 reported AR mutations, a substantial increase since 2004.
  • AR mutations associated with CaP treatment regimens are included, and AR mutations in CaP tissues have more than doubled (76 to 159).
  • A notable disconnect was observed, with over 40% of AIS patients lacking detectable AR mutations, challenging the established phenotype-genotype relationship.

Conclusions:

  • The updated AR mutations database provides a comprehensive resource for researchers and clinicians.
  • The findings highlight the complexity of AR mutations in CaP and AIS, including the occurrence of multiple mutations within single individuals.
  • The observed phenotype-genotype disconnect in AIS necessitates further investigation and may impact future LSDB development and diagnostic strategies.