Related Experiment Video

Updated: Apr 20, 2026

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
08:15

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

12.8K

Beyond BRCA: new hereditary breast cancer susceptibility genes

P Economopoulou1, G Dimitriadis1, A Psyrri1

  • 1Oncology Unit, 2nd Department of Internal Medicine, Attikon University Hospital, National Kapodistrian University of Athens, Greece.

Cancer Treatment Reviews
|December 4, 2014
PubMed

Insights

Genetic research is identifying new breast cancer susceptibility genes beyond BRCA1/2. Discovering these genes offers new avenues for breast cancer prevention strategies.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Inherited factors contribute to 5-10% of breast cancer cases.
  • BRCA1/2 mutations account for up to 30% of hereditary breast cancers.
  • Technological advancements drive the search for additional breast cancer susceptibility genes.

Purpose of the Study:

  • To review current findings on newly identified breast cancer susceptibility genes.
  • To highlight the importance of gene discovery for cancer prevention.

Main Methods:

  • Literature review of recent studies on breast cancer genetics.
  • Analysis of emerging data on gene mutations and their penetrance.

Main Results:

  • Identification of high-penetrance genes (TP53, PTEN) with rare germline mutations.
  • Identification of moderate-penetrance genes (CHEK2, ATM, PALB2) with more frequent mutations.
  • Emergence of new genes contributing to hereditary breast cancer risk.

Conclusions:

  • Several new genes are recognized as breast cancer susceptibility factors.
  • Understanding these genes enhances opportunities for primary and secondary breast cancer prevention.
  • Continued research into genetic susceptibility is crucial for advancing cancer care.
Keywords:
Breast cancer susceptibility genesHereditary breast cancerPALB2PTENTP53

More Related Videos

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA108:53

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

Published on: February 17, 2011

15.2K
In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose13:04

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

Published on: October 14, 2015

14.1K

Related Concept Videos

Cancer Prevention02:59

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...
8.7K
Cancers Originate from Somatic Mutations in a Single Cell02:21

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...
15.9K
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...
12.2K
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

6.6K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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...
10.5K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

3.1K