Breast cancer is a significant health concern worldwide, with nearly 12% of women in the general population facing a diagnosis in their lifetime. In India, the incidence is even higher, with 1 in 28 women affected. The BRCA genes—BRCA1 and BRCA2—play a crucial role in maintaining genomic integrity and suppressing tumor development. Mutations in these genes are associated with an increased risk of breast and ovarian cancers. BRCA Map is a cutting-edge next-generation sequencing (NGS) panel designed to identify BRCA mutations, providing vital information for both cancer diagnosis and risk assessment.

BRCA Map utilizes advanced NGS technology to perform full gene sequencing of BRCA1 and BRCA2, the genes most commonly linked to hereditary breast and ovarian cancers. These genes act as tumor suppressors by repairing DNA damage and maintaining cell stability. When these genes are mutated, their ability to repair DNA is compromised, leading to a higher risk of developing cancer.

BRCA1 and BRCA2 genes are known for their role in repairing double-stranded breaks in DNA, a critical function for preventing uncontrolled cell growth. Mutations in these genes can lead to a significant increase in cancer risk, especially for breast and ovarian cancers in women and, less commonly, breast cancer in men. BRCA Map tests both somatic (tissue) samples from diagnosed cancer patients and germline (blood) samples for individuals at risk.

The NGS panel covers the entire coding region of BRCA1 and BRCA2, allowing for the detection of a broad range of genetic alterations. This comprehensive approach helps in identifying pathogenic mutations and provides a detailed risk assessment, essential for making informed decisions about cancer management and prevention strategies.

Clinical Utility

BRCA Map offers several clinical benefits:

1. Identification of Driver Mutations: Detects mutations in BRCA1 and BRCA2 that increase the risk of breast and ovarian cancers. Identifying these mutations helps in understanding the genetic basis of cancer in individuals.

2. Drug Profiling and Treatment Guidance: Mutations in BRCA genes can influence the effectiveness of certain treatments. For instance, patients with BRCA mutations may benefit from PARP inhibitors, a class of drugs specifically designed to target cancer cells with defective DNA repair mechanisms.

3. Predictive Genomic Biomarker Identification: Helps in assessing an individual’s risk of developing cancer based on their genetic profile. This information is crucial for personalizing prevention and treatment plans.

4. Family Risk Assessment: Since BRCA mutations are inherited, identifying a mutation in one family member can help in assessing the risk for other relatives and guide them in seeking appropriate testing and preventive measures.

5. Informed Decision-Making: Provides valuable information for making informed choices about preventive surgeries (such as mastectomy or oophorectomy), enhanced screening programs, and lifestyle modifications to reduce cancer risk.
   
   

When to Consider BRCA Map

Consider BRCA Map testing if you meet any of the following criteria:

1. Strong Family History: Individuals with a family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer should consider testing. BRCA1 and BRCA2 mutations are inherited, and family members may share the same mutation.

2. Personal History of Cancer: If you have been diagnosed with breast or ovarian cancer, especially at a young age or with bilateral cancers, BRCA testing can provide critical information about the hereditary nature of your cancer.

3. Genetic Background: Individuals of Ashkenazi Jewish or Eastern European descent are at higher risk for BRCA mutations. Testing is recommended for those with this ancestry and a family history of related cancers.

4. History of Male Breast Cancer: Men with a history of breast cancer should consider BRCA testing, as mutations can also affect men and increase their risk of developing breast cancer.

5. Known Family Mutations: If a relative has a known BRCA1 or BRCA2 mutation, testing can confirm if you also carry the same mutation, guiding your cancer prevention and management strategies.
   
   

MapmyGenome Offerings

MapmyGenome provides comprehensive services related to BRCA Map, including:

1. Targeted NGS Panel: Emphasis on BRCA1 and BRCA2 full gene sequencing to identify known and novel mutations associated with breast and ovarian cancers.

2. Genetic Counseling: Expert guidance to help you understand your test results, discuss available management and treatment options, and plan for future health strategies based on your genetic profile.

3. Reporting: Clear and detailed reports on pathogenic and likely pathogenic variants, following the ACMG (American College of Medical Genetics) guidelines. Our reports provide actionable insights for clinical decision-making.

4. State-of-the-Art Bioinformatics: Utilization of advanced bioinformatics tools and expertise to ensure accurate and reliable analysis of your genetic data.

5. Personalized Risk Assessment: Tailored risk assessments and recommendations based on your individual genetic profile, family history, and clinical findings.

 

Test Specifications

                                     

Technique Platform	Coverage	Variant types	TAT	Sample requirements
NGS	700 - 800X	SNV	4 - 5 weeks	FFPE (Formalin-Fixed Paraffin-Embedded) Sample - Somatic cases, Blood Sample - Germline cases