BRCA1 & BRCA2 gene analysis and deletion duplication by MLPA_ONCO With MCC

BRCA1 & BRCA2 Gene Analysis and Deletion/Duplication by MLPA_ONCO with MCC

Test Name: BRCA1 & BRCA2 Gene Analysis and Deletion/Duplication by MLPA_ONCO with MCC

Sample Type: Peripheral Blood (EDTA)

Purpose:
This comprehensive genetic test evaluates the BRCA1 and BRCA2 genes for disease-causing mutations, including both sequence variants and large genomic rearrangements (deletions/duplications) using MLPA (Multiplex Ligation-dependent Probe Amplification) technology. It helps assess hereditary cancer risk, particularly for breast and ovarian cancers.

Key Benefits

✔ Detects inherited BRCA1 and BRCA2 mutations
✔ Identifies large gene deletions and duplications missed by sequencing alone
✔ Assesses hereditary breast and ovarian cancer (HBOC) risk
✔ Supports personalized cancer screening and prevention strategies
✔ Assists in treatment planning and family risk assessment

Recommended For

• Individuals with a personal or family history of breast cancer
• Ovarian, fallopian tube, or primary peritoneal cancer patients
• Families with multiple cancer cases across generations
• Early-onset breast cancer (<50 years)
• Male breast cancer cases
• Individuals seeking hereditary cancer risk evaluation

Methodology

• Next-Generation Sequencing (NGS)
• MLPA for deletion/duplication analysis
• MCC (Mutation Confirmation & Clinical Correlation)

Clinical Significance

Pathogenic variants in BRCA1 and BRCA2 significantly increase the lifetime risk of:

• Breast Cancer
• Ovarian Cancer
• Pancreatic Cancer
• Prostate Cancer
• Certain other hereditary malignancies

Report Includes

• Detected pathogenic and likely pathogenic variants
• Large deletion/duplication analysis
• Clinical interpretation
• Risk assessment insights
• Genetic counseling recommendations

Early identification of BRCA mutations enables proactive cancer surveillance, preventive measures, and informed healthcare decisions for patients and their families.