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

The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

The Ras Gene

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...

Abnormal Proliferation

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...

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

You might also read

Related Articles

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

Sort by

Same author

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Journal of medical genetics·2026

Same author

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

European journal of human genetics : EJHG·2026

Same author

French recommendations on multi-gene panel testing in renal cell carcinoma.

European journal of medical genetics·2025

Same author

Uveal Melanoma and the Lynch Syndrome Tumor Spectrum.

JAMA ophthalmology·2025

Same author

Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes.

Cancers·2025

Same author

[Prophylactic breast surgery in high-risk breast cancer patients].

Bulletin du cancer·2025

Search research articles

Related Experiment Video

Updated: May 11, 2026

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

Published on: July 25, 2019

Germline BAP1 mutations predispose to renal cell carcinomas.

Tatiana Popova¹, Lucie Hebert, Virginie Jacquemin

¹Institut Curie, Inserm U830, Paris 75248, France.

American Journal of Human Genetics

|May 21, 2013

Summary

A newly identified germline BAP1 mutation (c.277A>G) is linked to hereditary renal cell carcinoma (RCC). This discovery suggests BAP1 is a key gene in RCC predisposition, expanding the known BAP1 tumor syndrome.

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: May 11, 2026

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

Published on: July 25, 2019

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:

The genetic underpinnings of familial nonsyndromic renal cell carcinoma (RCC) remain largely unknown.
Identifying these genetic factors is crucial for understanding hereditary cancer syndromes and improving patient risk stratification.

Purpose of the Study:

To identify the genetic cause of hereditary renal cell carcinoma (RCC) in a family with multiple affected members.
To investigate the role of the BAP1 gene in RCC predisposition and its potential inclusion in the BAP1-associated tumor predisposition syndrome.

Main Methods:

Whole-exome sequencing and tumor profiling were employed in a family with a history of RCC.
Germline BAP1 mutation screening was conducted in familial cancer aggregations, including RCC, uveal melanoma, malignant pleural mesothelioma, and cutaneous melanoma.

Main Results:

A germline BAP1 mutation (c.277A>G, p.Thr93Ala) was identified and segregated with RCC in the studied family.
BAP1 was found to be inactivated in RCC tumors from affected family members.
A significant association between germline BAP1 mutations and RCC was observed in a broader cohort, indicating an increased RCC risk within the BAP1 syndrome.

Conclusions:

Renal cell carcinoma (RCC) should be considered part of the BAP1-associated tumor predisposition syndrome.
The BAP1 gene is confirmed as a significant RCC-predisposition gene, necessitating further investigation into its role in renal tumorigenesis.