Expert Reviewed By: Dr. Brandon Colby MD
```htmlBreast cancer is a multifaceted disease with various subtypes, each requiring unique treatment approaches. One such subtype is HER2 positive breast carcinoma, which is characterized by the overexpression of the HER2 protein. This article aims to provide a comprehensive understanding of HER2 positive breast carcinoma, its diagnosis, and the role of genetic testing in its management.
What is HER2 Positive Breast Carcinoma?
HER2 positive breast carcinoma is a type of breast cancer where cancer cells have higher than normal levels of the HER2 protein on their surface. HER2, or Human Epidermal Growth Factor Receptor 2, plays a significant role in cell growth and division. When overexpressed, it can lead to uncontrolled cell proliferation, contributing to the aggressiveness of the cancer.
Diagnosing HER2 Positive Breast Carcinoma
Early and accurate diagnosis of HER2 positive breast carcinoma is crucial for effective treatment. The diagnosis typically involves a combination of imaging tests, biopsies, and specific HER2 testing.
Imaging Tests
Initial detection often starts with imaging tests such as mammograms, ultrasounds, and MRIs. These tests help identify suspicious areas in the breast that may require further investigation.
Biopsy
A biopsy involves taking a small sample of breast tissue from the suspicious area and examining it under a microscope. This helps determine whether the cells are cancerous and, if so, what type of breast cancer it is.
HER2 Testing
Once breast cancer is confirmed, specific tests are conducted to determine the HER2 status of the cancer cells. The two main tests used are Immunohistochemistry (IHC) and Fluorescence In Situ Hybridization (FISH).
- Immunohistochemistry (IHC): This test measures the amount of HER2 protein on the surface of cancer cells. The results are scored on a scale of 0 to 3+, with 3+ indicating HER2 positivity.
- Fluorescence In Situ Hybridization (FISH): This test looks at the number of copies of the HER2 gene in the cancer cells. A higher number of copies indicates HER2 positivity.
The Role of Genetic Testing in HER2 Positive Breast Carcinoma
Genetic testing has become an invaluable tool in the management of HER2 positive breast carcinoma. It helps in various aspects, including risk assessment, treatment planning, and monitoring disease progression.
Risk Assessment
Genetic testing can identify individuals who are at an increased risk of developing HER2 positive breast carcinoma. For instance, mutations in the BRCA1 and BRCA2 genes are known to increase the risk of breast cancer. Identifying these mutations can help in early detection and preventive measures.
Treatment Planning
Understanding the genetic profile of the cancer can guide treatment decisions. HER2 positive breast carcinoma is often treated with targeted therapies such as trastuzumab (Herceptin) and pertuzumab (Perjeta), which specifically target the HER2 protein. Genetic testing can help determine the suitability of these treatments for individual patients.
Monitoring Disease Progression
Genetic testing can also be used to monitor the effectiveness of treatment and detect any genetic changes in the cancer cells over time. This can help in adjusting treatment plans as needed to improve outcomes.
Conclusion
HER2 positive breast carcinoma is a distinct subtype of breast cancer that requires specialized diagnostic and treatment approaches. Genetic testing plays a crucial role in the management of this disease, from risk assessment to treatment planning and monitoring. By understanding the genetic underpinnings of HER2 positive breast carcinoma, healthcare providers can offer more personalized and effective care to their patients.
For further reading, you can access the referenced paper on Semantic Scholar: Semantic Scholar Link
```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)