Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Fumarate Hydratase-deficient Renal Cell Carcinoma - A Multicentric Comprehensive Clinical, Pathological, and Molecular Analysis of 12 Cases.

Pathobiology : journal of immunopathology, molecular and cellular biology·2026

Same author

Premedication with steroids in breast cancer - supportive treatment or tumour growth promotion?

Magyar onkologia·2026

Same author

[Successful selpercatinib treatment of metastatic medullary thyroid cancer carrying rare RET variant].

Magyar onkologia·2026

Same author

DNA methylation and demethylation dynamics in pituitary neuroendocrine tumours.

Endocrine-related cancer·2026

Same author

Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiation.

medRxiv : the preprint server for health sciences·2026

Same author

[Comorbidities affecting abiraterone treatment in patients with metastatic castration-resistant prostate cancer: a meta- analysis].

Magyar onkologia·2026

Search research articles

Related Experiment Video

Updated: Oct 3, 2025

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study.

Anikó Bozsik^1,2, János Papp^1,2, Vince Kornél Grolmusz^1,2

¹Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.

Cancer Research and Treatment

|February 15, 2022

Summary

This study reclassified four of five variants in BRCA1/2 genes, impacting genetic counseling and patient management for hereditary breast and ovarian cancer. Findings clarify variant significance for clinical surveillance and treatment.

Keywords:

BRCA1 BRCA2 Breast neoplasms Reclassification Splicing Variants of unknown significance

More Related Videos

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Related Experiment Videos

Last Updated: Oct 3, 2025

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Area of Science:

Genetics
Oncology
Molecular Biology

Background:

Variants of unknown significance (VUS) in BRCA1/2 genes pose challenges in genetic counseling and therapy.
Accurate classification of VUS is crucial for hereditary breast and ovarian cancer (HBOC) management.

Purpose of the Study:

To functionally characterize five uninvestigated BRCA1/2 variants with potential splice effects.
To reclassify VUS based on molecular and clinical evidence for improved patient care.

Main Methods:

Functional characterization of five BRCA1/2 variants in HBOC probands.
Transcript-level analysis, splicing assessment, and nonsense-mediated decay studies.
Clinical data review, pedigree analysis, co-segregation, and tumor loss of heterozygosity (LOH) testing.

Main Results:

Reclassified two BRCA1 variants (c.4484+4dupA, c.5407-10G>A) from VUS to likely pathogenic.
Reclassified one BRCA2 variant (c.8487G>T) as likely pathogenic based on splicing and LOH.
Reclassified one BRCA2 variant (c.793G>A) from VUS to likely benign.
One BRCA1 variant (c.4358-31A>C) remained VUS due to incomplete splicing data.

Conclusions:

Provided molecular and clinical evidence to reclassify four out of five studied BRCA1/2 variants.
Variant reclassification (up or down) has significant clinical implications for patient management.
Accurate variant classification ensures appropriate medical surveillance, preventive measures, and family screening for at-risk relatives.