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,...

Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...

Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...

Cancer Prevention

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...

Cancer-Critical Genes I: Proto-oncogenes

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...

You might also read

Related Articles

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

Sort by

Same author

Clinical implementation of polygenic risk scores.

European journal of human genetics : EJHG·2025

Same author

Breast cancer germline multigene panel testing in mainstream oncology based on clinical-public health utility: ESMO Precision Oncology Working Group recommendations.

Annals of oncology : official journal of the European Society for Medical Oncology·2025

Same author

Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing.

Annals of oncology : official journal of the European Society for Medical Oncology·2024

Same author

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.

Annals of oncology : official journal of the European Society for Medical Oncology·2022

Same author

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

Annals of oncology : official journal of the European Society for Medical Oncology·2022

Same author

Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.

Hereditary cancer in clinical practice·2022

Search research articles

Related Experiment Video

Updated: May 24, 2026

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose

Published on: October 14, 2015

Familial breast cancer.

F Lalloo¹, D G Evans

¹Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary's Hospital, Central Manchester Hospitals Foundation Trust, Manchester M13 9WL, UK.

Clinical Genetics

|February 24, 2012

Summary

Genetic research has identified high-risk breast cancer (BC) genes like BRCA1 and BRCA2, offering insights into familial risk. Future technologies may expand genetic testing beyond current clinical use.

Area of Science:

Genetics
Oncology
Molecular Biology

Background:

Significant advancements have been made in understanding the genetic basis of breast cancer (BC) since the discovery of the first high-risk genes in 1990.
An increasing number of women at risk seek genetic counseling regarding their predisposition and management options.
Genetic predisposition to BC is categorized into high-risk (40-85% lifetime risk), moderate-risk (20-40% risk), and low-risk alleles.

Purpose of the Study:

To review the progress in identifying genetic factors contributing to familial breast cancer.
To highlight the current clinical utility of identified breast cancer genes.
To discuss the potential future of genetic testing for breast cancer risk assessment.

Main Methods:

Review of scientific literature on breast cancer genetics.

More Related Videos

Modeling Breast Cancer via an Intraductal Injection of Cre-expressing Adenovirus into the Mouse Mammary Gland

Modeling Breast Cancer via an Intraductal Injection of Cre-expressing Adenovirus into the Mouse Mammary Gland

Published on: June 7, 2019

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 24, 2026

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose

Published on: October 14, 2015

Modeling Breast Cancer via an Intraductal Injection of Cre-expressing Adenovirus into the Mouse Mammary Gland

Modeling Breast Cancer via an Intraductal Injection of Cre-expressing Adenovirus into the Mouse Mammary Gland

Published on: June 7, 2019

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

Identification and categorization of known breast cancer susceptibility genes.

Analysis of current clinical practices in genetic testing for breast cancer.

Main Results:

High-risk genes (BRCA1, BRCA2, TP53) confer a substantial lifetime risk of BC.
Moderate-risk genes (PALB1, BRIP, ATM, CHEK2) and low-risk common alleles have also been identified.
Currently, only BRCA1, BRCA2, and TP53 are widely used in clinical settings.

Conclusions:

Genetic testing for breast cancer has evolved significantly, identifying multiple risk categories.
Clinical application is currently focused on high-penetrance genes, but technological advancements may broaden future testing.
Understanding genetic predisposition is crucial for risk assessment and counseling for women at risk of breast cancer.