Related Experiment Video
Updated: Jun 19, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
Risk of Radiation-Associated Contralateral Breast Cancer in Germline Mutation Carriers: A Meta-Analysis and
Christina Hari Nawangsih Prihharsanti1, Yan Wisnu Prajoko2, Danendra Rakha Putra Respati3
1Division of Radiation Oncology, Department of Radiology, Faculty of Medicine, Universitas Diponegoro, Semarang 50275, Indonesia.
Radiotherapy significantly increases the risk of contralateral breast cancer (CBC) in survivors with BRCA1/2, ATM, and CHEK2 gene mutations. This finding highlights the need for personalized treatment strategies based on genetic risk.
Area of Science:
- Oncology
- Genetics
- Radiation Oncology
Background:
- Contralateral breast cancer (CBC) is a concern for breast cancer survivors, especially those with high-penetrance germline mutations.
- The role of radiotherapy (RT) in increasing CBC risk among these individuals is not well understood.
Purpose of the Study:
- To systematically review and meta-analyze the incidence of radiation-induced CBC in germline mutation carriers.
- To evaluate the association between RT and CBC risk in BRCA1, BRCA2, CHEK2, and ATM mutation carriers.
Main Methods:
- Systematic review and meta-analysis following PRISMA guidelines.
- Searched six databases for cohort and case-control studies published within the last 15 years.
- Utilized a random-effects model to estimate cumulative risk (CR) and rate ratios (RR).
Main Results:
- Seven studies were included in the analysis.
- Five-year CR of CBC was 0.55 for BRCA1/2, 0.89 for ATM, and 0.80 for CHEK2 carriers.
- Radiotherapy showed a significant RR of 2.98 for ATM carriers and an overall RR of 2.53, indicating a >2-fold increased CBC risk.
Conclusions:
- Radiotherapy significantly elevates the risk of contralateral breast cancer.
- ATM and CHEK2 mutation carriers are particularly susceptible to radiation-induced CBC.
- Personalized genetic risk stratification is crucial for optimizing breast cancer treatment decisions.
More Related Videos
08:15gDNA 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
13:04In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
Published on: October 14, 2015
Related Concept Videos
Cancer Prevention
Some...
Cancer-Critical Genes II: Tumor Suppressor Genes
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...
The Retinoblastoma Gene
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,...
Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mutagenicity and Carcinogenicity
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast, controlled...