With the rise of personalized medicine, genetic testing has become a powerful tool in assessing and guiding breast cancer treatment plans. By revealing a person's unique genetics and a tumor's characteristics, these tests empower doctors to craft targeted therapies and make informed surgical decisions for better patient outcomes.
Whether a woman is recently diagnosed with breast cancer or has a strong family history of the condition, genetic testing for women has become a vital part of the treatment conversation.
What is genetic testing in breast cancer?
Genetic testing for breast cancer falls into two main categories: germline testing and tumor genomic testing. Germline testing identifies inherited mutations such as BRCA1 and BRCA2, which are present in every cell of the body. In contrast, tumor genomic testing analyzes the specific genetics of the cancer itself. Both types of testing provide valuable insights into treating a patient's cancer effectively.
When someone tests positive for an inherited mutation, doctors can modify treatment plans to decrease the risk of future cancer development. Meanwhile, tumor testing helps determine which medications a cancer is most likely to respond to, enabling truly personalized treatment approaches.
Treatment guided by genetics
One of the significant advantages of genetic testing is its role in personalized therapy. BRCA1 and BRCA2 pathogenic variants are clinically relevant for treatment selection in breast cancer because they confer sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. This testing helps healthcare providers understand how genetics respond to specific medications, potentially preventing negative reactions and treatment failures.
Olaparib and talazoparib are now approved for the treatment of metastatic germline BRCA1 or BRCA2 pathogenic or likely pathogenic variant–associated breast cancer. Recent breakthrough research shows that patients with high-risk, BRCA-positive breast cancer who received olaparib after standard treatment continued to have better survival outcomes than those who received placebo after a median follow-up of 6.1 years.
Furthermore, genetic testing helps determine whether a patient will benefit from chemotherapy. For patients in early stages of cancer, these tests can help avoid unnecessary chemotherapy while ensuring timely, appropriate treatment when needed.
Guiding surgical decisions
Genetic testing results significantly influence surgical options. BRCA1/2 mutation testing should be offered to all newly diagnosed patients with breast cancer ≤65 years and select patients >65 years based on personal history, family history, ancestry, or eligibility for poly(ADP-ribose) polymerase (PARP) inhibitor therapy.
Women with BRCA mutations may consider risk-reducing surgeries, such as bilateral mastectomy or removal of ovaries and fallopian tubes, to lower their cancer risk. Others may opt for enhanced surveillance or preventative medications, depending on their genetic findings and personal preferences.
Current treatment advances
The field of pharmacogenetic testing and targeted therapy continues to evolve rapidly. Clinical Efficacy: Olaparib and talazoparib are more effective than chemotherapy in treating BRCA-mutated breast cancer, improving survival rates in both early and metastatic stages according to recent clinical trials.
The PARTNER trial has found a new way to treat inherited breast cancers linked to BRCA mutations, and reported 100% survival by combining olaparib with chemotherapy in a specific timing sequence before surgery.
Additionally, researchers are exploring combination therapies, including PARP inhibitors with immunotherapy, to enhance treatment effectiveness and overcome potential resistance mechanisms.
Who should consider genetic testing?
Current guidelines recommend genetic testing for individuals with:
- Personal history of breast cancer diagnosed at age 65 or younger
- Strong family history of breast, ovarian, or related cancers
- Ashkenazi Jewish ancestry
- Male breast cancer in the family
- Multiple cancers in the same individual or family
About 1 in 300 people to 1 in 800 people carry a BRCA1 or BRCA2 mutation, and early identification can significantly impact treatment decisions and family planning.
Looking ahead
The integration of genetic testing into breast cancer care represents a fundamental shift toward precision medicine. As our understanding of genetic factors continues to expand, more targeted therapies are becoming available, offering hope for improved outcomes and quality of life for patients with hereditary breast cancer syndromes.
Early detection through genetic testing, combined with advanced targeted therapies, continues to transform the landscape of breast cancer treatment, providing patients and their families with more options and better outcomes than ever before.
About Pink Medical:
Pink Medical specializes in comprehensive breast health services, including cardiovascular genetic testing and advanced diagnostic imaging. Our all-female team includes healthcare providers with extensive experience in breast imaging and testing services. We provide innovative painless high quality mammogram technology combined with comprehensive ultrasound and genetic testing to personalize your care, protect your health and safeguard your wellbeing.
For more information, visit https://pinkmedicalny.com/
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