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The androgen receptor gene mutations database

B Gottlieb1, M Trifiro, R Lumbroso

  • 1Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, 3755 Chemin de la Cote-Ste-Catherine, Montreal, Quebec H3T 1E2, Canada. mc33@musica.mcgill.ca

Nucleic Acids Research
|January 1, 1997
PubMed
Summary
This summary is machine-generated.

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This article presents an updated version of a specialized database tracking genetic changes in the androgen receptor. The resource now includes more entries, new information on prostate cancer, and a classification for a mild form of androgen insensitivity. Researchers can access these findings online to better understand how specific genetic variations influence health and disease.

Area of Science:

  • Genetics and molecular biology research involving the androgen receptor gene mutations database
  • Oncology and clinical endocrinology studies

Background:

Comprehensive knowledge regarding genetic variations remains incomplete despite decades of clinical observation. That uncertainty drove the need for centralized repositories to track specific molecular alterations. Prior research has shown that tracking these changes provides insights into hormone signaling pathways. However, existing records often lacked sufficient detail on somatic variations found in specific tissue types. This gap motivated the development of more robust, accessible digital archives for clinicians. Scientists previously struggled to correlate specific genotypes with emerging clinical phenotypes across diverse patient populations. No prior work had resolved how frequently identical mutations appear across unrelated family lines. Such limitations hindered the ability to predict disease progression or therapeutic responses effectively.

Purpose Of The Study:

The aim of this work is to describe the updated version of the androgen receptor gene mutations database. This effort addresses the need for a more comprehensive repository of genetic variations. The researchers sought to incorporate significant amounts of new somatic data from prostatic cancer tissue. They also intended to define a new constitutional phenotype known as mild androgen insensitivity. This project was motivated by the requirement to provide better access to clinical information. The team aimed to improve the utility of the resource for researchers and clinicians globally. By expanding the collection, they hoped to facilitate a deeper analysis of mutation patterns. This update serves to consolidate fragmented reports into a single, accessible, and organized digital location.

Keywords:
genetic mutation databasehormone signaling pathwaysgenotype-phenotype correlationmolecular diagnostics

Frequently Asked Questions

The researchers propose that the database allows for the examination of how CpG sites contribute to the recurrence of identical mutations across different families. This mechanism helps explain why certain genetic variations appear repeatedly in unrelated patient groups.

The authors integrated a large volume of new data concerning somatic mutations specifically identified within prostatic cancer tissue. This addition expands the scope of the resource beyond constitutional genetic variations.

The team defines a new constitutional phenotype termed mild androgen insensitivity. This classification distinguishes patients with less severe symptoms from those with traditional androgen insensitivity syndromes.

The database is accessible via an internet site, through the European Molecular Biology Laboratory, or as downloadable files for Macintosh Filemaker Pro and Word software. These formats ensure wide compatibility for various research environments.

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Main Methods:

Review Approach involved aggregating and categorizing genetic information from diverse clinical reports. The team curated entries to ensure consistency across the expanded collection of documented variants. They implemented a digital platform to host the updated records for public access. The researchers utilized specific software formats to distribute the compiled information to the scientific community. By collaborating with international repositories, they ensured the long-term availability of the dataset. The methodology focused on integrating somatic findings alongside established constitutional mutation records. They systematically updated the total count of entries to reflect the most recent literature. This structured approach allowed for the classification of newly identified clinical phenotypes within the existing framework.

Main Results:

Key Findings From the Literature indicate that the total number of documented mutations rose to 272 from the previous 212. The authors successfully incorporated a large volume of somatic mutation data derived from prostatic cancer tissue. They established a new clinical category for patients exhibiting mild androgen insensitivity. The updated resource provides a platform to analyze the influence of CpG sites on mutation frequency. Results show that the database now supports multiple access points including internet sites and downloadable files. The researchers identified that centralized storage aids in tracking the multiplicity of reports for identical genetic changes. Their findings confirm that the inclusion of new tissue-specific data improves the overall utility of the repository. The data confirms that the expanded collection offers a more comprehensive view of genetic variation than earlier versions.

Conclusions:

Synthesis and Implications suggest that the expanded repository serves as a vital tool for molecular diagnostics. The authors indicate that tracking somatic changes in prostatic tissue enhances our understanding of cancer development. Their analysis of specific nucleotide sites provides evidence regarding the recurrence of identical genetic variations. This work highlights the importance of distinguishing between constitutional phenotypes like mild androgen insensitivity. The researchers propose that digital accessibility facilitates broader collaboration among international clinical teams. By providing multiple file formats, the team ensures that diverse research groups can utilize the information. The findings demonstrate that centralized data management supports the identification of complex genotype-phenotype correlations. Future efforts will likely rely on these updated records to refine diagnostic criteria for patients.

The total count of reported mutations increased from 212 to 272 entries. This growth reflects the inclusion of newly discovered variants and expanded clinical reporting.

The authors suggest that their centralized resource facilitates a better understanding of how specific genetic alterations influence clinical outcomes. They propose that this improved data organization supports more accurate diagnostic assessments for clinicians.