BRCA1, BRCA2 with HRR Genes Panel - Understanding Genetic Risks for Breast, Ovarian, and Other Cancers
Breast and ovarian cancers are among the most common hereditary cancers, with BRCA1 and BRCA2 mutations playing a significant role in increasing the risk for these cancers. However, other genes involved in the homologous recombination repair (HRR) pathway also contribute to cancer susceptibility. Mapmygenome’s BRCA1/BRCA2 with HRR Genes Panel offers a comprehensive genetic test that assesses mutations not only in the BRCA1 and BRCA2 genes but also in additional HRR genes that impact cancer risk.
This panel provides vital information for doctors, patients, and their families, helping them make informed decisions about cancer prevention, early detection, and personalized treatment strategies. Understanding these genetic mutations can help patients take proactive steps toward managing their health and reducing the likelihood of cancer.
The BRCA1/BRCA2 with HRR Genes Panel focuses on analyzing genetic mutations that contribute to faulty DNA repair mechanisms, primarily through the homologous recombination repair pathway. Here is a breakdown of the key genes tested in this panel:
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BRCA1 & BRCA2: These genes are central to hereditary breast and ovarian cancer syndromes. Mutations in either gene significantly increase the risk of breast, ovarian, prostate, and other cancers. Women with BRCA1/BRCA2 mutations have up to a 72% lifetime risk of developing breast cancer and up to 44% for ovarian cancer.
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HRR Genes: Homologous recombination repair (HRR) is a crucial DNA repair pathway. When genes involved in this pathway are mutated, the body’s ability to repair DNA damage is compromised, leading to increased cancer risk. Some of the key HRR genes include:
- PALB2: Partner and Localizer of BRCA2. Mutations here can lead to a higher risk of breast cancer, and there is emerging evidence linking it to ovarian and pancreatic cancer.
- RAD51C and RAD51D: These genes play vital roles in DNA repair. Mutations can increase the risk of ovarian cancer and contribute to breast cancer susceptibility.
- ATM (Ataxia Telangiectasia Mutated): Mutations in this gene are linked to a higher risk of breast cancer, particularly in women.
- CHEK2 (Checkpoint Kinase 2): Mutations in CHEK2 are associated with an increased risk of breast cancer and, in some cases, colorectal cancer.
Clinical Utility
The BRCA1/BRCA2 with HRR Genes Panel is clinically useful in several scenarios:
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Cancer Risk Assessment: This panel identifies individuals with inherited genetic mutations that significantly increase their lifetime risk of developing breast, ovarian, and other cancers. Early identification allows for more effective monitoring and preventive measures.
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Personalized Medical Management: For individuals who test positive for mutations in BRCA1, BRCA2, or HRR genes, the information can guide personalized treatment options. This could include increased surveillance, preventive surgeries, and tailored therapies such as PARP inhibitors, which are particularly effective in cancers driven by BRCA and HRR mutations.
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Family Planning: Genetic information from this panel can be critical for family members. If one person in a family has a BRCA or HRR mutation, their relatives may also be at risk. Knowing this can lead to early genetic testing for other family members, allowing them to make informed healthcare decisions.
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Targeted Therapy Options: BRCA1, BRCA2, and HRR mutations open the door to specific treatments like PARP inhibitors, which target the cancer cells‘ ability to repair their DNA. Patients with these mutations can benefit from more precise, targeted cancer therapies.
When to Consider Testing
Doctors and patients should consider testing with the BRCA1/BRCA2 with HRR Genes Panel under the following circumstances:
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Personal or Family History of Cancer: Individuals with a personal or family history of breast, ovarian, prostate, or pancreatic cancers should consider genetic testing, especially if there were multiple cases of cancer in the family at a young age.
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Diagnosis of Cancer: Patients newly diagnosed with breast, ovarian, or prostate cancer may benefit from knowing their BRCA/HRR gene status. This can help guide treatment options, including eligibility for PARP inhibitor therapy or consideration of preventive measures for other cancers.
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Proactive Cancer Screening: Even in the absence of a cancer diagnosis, individuals with a family history of BRCA1/BRCA2 or HRR gene mutations can opt for genetic testing to better understand their risk. This allows for proactive surveillance, which can significantly improve early detection rates.
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Fertility and Family Planning: For individuals who carry mutations in BRCA1, BRCA2, or HRR genes, knowing their status can influence decisions about fertility and family planning. Women with these mutations may choose to undergo preventive measures such as risk-reducing surgery before having children.
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For Men: Men with BRCA1 or BRCA2 mutations also face a higher risk of developing prostate and breast cancers. Testing can inform their cancer risk and guide preventive strategies.
MapmyGenome Offerings
MapmyGenome offers a cutting-edge BRCA1/BRCA2 with HRR Genes Panel, which includes the following services:
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Comprehensive Genetic Testing: The panel screens for mutations in BRCA1, BRCA2, and additional HRR genes, providing a thorough analysis of genetic cancer risk.
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Personalized Report: Patients receive a detailed report outlining their genetic mutations (if any) and the implications for cancer risk. The report also provides insights into preventive and therapeutic options based on the genetic findings.
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Genetic Counseling: Our expert genetic counselors help patients and their families understand the test results and provide guidance on next steps, whether that involves increased monitoring, preventive surgeries, or treatment decisions.
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Family Testing: If a mutation is identified, MapmyGenome offers testing for family members who may also be at risk, ensuring that the entire family can benefit from personalized cancer prevention strategies.
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Supportive Care: Beyond the test, we provide resources for patients, including information on lifestyle changes, regular screening protocols, and emotional support for those dealing with the implications of hereditary cancer risks.