Expert Reviewed By: Dr. Brandon Colby MD
Understanding the Deleterious RAD51D Gene Mutation
The RAD51D gene plays a crucial role in DNA repair and maintaining genomic stability. A deleterious mutation in this gene is associated with an increased risk of hereditary breast and ovarian cancer syndrome (HBOC). According to a retrospective analysis of genetic data related to HBOC gene sequences in 4630 French cases, it is important to retest BRCA1/2 negative cases and perform functional splicing tests in variant classification.
Individuals with a deleterious RAD51D gene mutation have a higher likelihood of developing breast or ovarian cancer due to the impaired DNA repair mechanism. The mutation can be inherited from either parent, and carriers have a 50% chance of passing it on to their offspring.
Diagnosing the Deleterious RAD51D Gene Mutation
Diagnosis of the deleterious RAD51D gene mutation involves genetic testing, which can be performed using different methods. These methods include:
Next-Generation Sequencing (NGS)
NGS is a high-throughput method that allows for the simultaneous analysis of multiple genes. In a study that used NGS dementia panel for gene-panel next-generation sequencing, age at clinical onset, clinical syndrome, and family history were identified as strong predictors for finding a deleterious variant in dementia patients.
Functional Splicing Tests
Functional splicing tests are used to assess the impact of a genetic variant on the splicing process. These tests can help classify variants as either pathogenic or benign, which is essential in determining the risk associated with the deleterious RAD51D gene mutation.
Using Genetic Testing for the Deleterious RAD51D Gene Mutation
Genetic testing for the deleterious RAD51D gene mutation can provide valuable information for individuals and their families. Some of the uses of genetic testing include:
Risk Assessment
Identifying a deleterious RAD51D gene mutation can help determine an individual's risk of developing breast or ovarian cancer. This information can be used to make informed decisions about cancer screening and prevention strategies.
Family Planning
Carriers of the deleterious RAD51D gene mutation have a 50% chance of passing the mutation on to their offspring. Genetic testing can help couples make informed decisions about family planning and prenatal testing options.
Targeted Therapy
Some cancer treatments are more effective in individuals with specific genetic mutations. Identifying a deleterious RAD51D gene mutation can help guide treatment decisions and improve patient outcomes.
Genetic Counseling
Individuals with a deleterious RAD51D gene mutation and their families may benefit from genetic counseling. A genetic counselor can help interpret genetic test results, explain the associated risks, and provide guidance on cancer screening and prevention strategies.
In conclusion, understanding, diagnosing, and using genetic testing for the deleterious RAD51D gene mutation can provide valuable information for individuals and their families. Genetic testing can help assess cancer risk, guide treatment decisions, and inform family planning options. With advances in genetic testing technologies and a better understanding of the role of RAD51D in DNA repair, we can work towards improving the lives of those affected by this mutation and reducing the burden of cancer.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)