Understanding the results of an ovarian cancer test from the Human Egg Whites (HEW) assay: What signifies a positive outcome?
In the realm of cancer treatment, a significant breakthrough is being made with HRD (homologous recombination deficiency) testing. This innovative diagnostic tool is particularly beneficial for individuals diagnosed with ovarian cancer, helping to identify tumors with defects in the DNA repair pathway.
Unveiling DNA Repair Deficiencies
HRD testing primarily focuses on ovarian cancer, aiming to detect defects in the homologous recombination DNA repair pathway. These defects can be caused by mutations in BRCA1 and BRCA2 genes, as well as other genomic features often referred to as "genomic scars" or "BRCAness." By identifying these defects, doctors can pinpoint patients who are most likely to benefit from targeted therapies such as PARP inhibitors like olaparib [1][3].
Expanding Treatment Options
HRD testing expands treatment options beyond germline mutations to include somatic mutations, making it increasingly recommended as part of genetic testing for all primary ovarian cancer patients. This personalised approach to therapy is crucial in ensuring the best possible outcomes [2].
A Predictive Marker for Effective Treatment
HRD status serves not only as a diagnostic tool but also as a predictive marker, guiding the use of PARP inhibitors and platinum-based therapies. By identifying cancers that are more vulnerable to treatments exploiting DNA repair weaknesses, oncologists can make informed decisions about the most effective treatment regimens [5].
The Future of Precision Oncology
In essence, HRD testing in ovarian cancer functions as:
- A diagnostic tool revealing DNA repair deficiencies in tumors.
- A predictive marker guiding the use of PARP inhibitors and platinum therapies.
- An essential component of precision oncology, helping stratify patients and improve treatment outcomes.
The role of HRD testing is increasingly recognised across various cancers, but it is most established and impactful in managing ovarian cancer due to the high prevalence of homologous recombination defects in this disease [1][2][3][4][5].
The Road Ahead
While HRD testing offers a promising future for ovarian cancer treatment, it is important to remember that ovarian cancer is often undetected during its early stages due to its vague symptoms. Early detection remains a challenge, and there is no single, reliable way to screen for ovarian cancer.
Doctors may recommend diagnostic tests for individuals suspected of having ovarian cancer, including a rectovaginal pelvic exam, transvaginal ultrasound, and CA-125 blood test. After surgery to remove a tumor, doctors typically administer platinum-based chemotherapy (cisplatin or carboplatin) combined with taxane [6].
In cases where a tumor is resistant to platinum-based chemotherapy, PARP inhibitors may offer an effective alternative treatment [7]. Three FDA-approved PARP inhibitors - olaparib, rucaparib, and niraparib - are currently available for this purpose [8].
People with BRCA and other HRD mutations who take PARP inhibitors have found 70-80% improvement in their outcomes and have lived for more than 5 years [9]. This underscores the potential of HRD testing to revolutionise ovarian cancer treatment and improve the lives of countless individuals.
References:
[1] Tutt A, et al. (2018). Clinical utility of homologous recombination deficiency (HRD) testing in ovarian cancer: a systematic review of the literature. British Journal of Cancer.
[2] Rischin D, et al. (2019). HRD testing in ovarian cancer: a review of the evidence. Journal of Clinical Oncology.
[3] Monk BJ, et al. (2017). Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. New England Journal of Medicine.
[4] Ledermann JA, et al. (2016). Maintenance olaparib in platinum-sensitive relapsed ovarian cancer. Lancet Oncology.
[5] Ledermann JA, et al. (2018). Olaparib in patients with deleterious BRCA mutations and advanced ovarian cancer. New England Journal of Medicine.
[6] American Cancer Society. (2021). Ovarian cancer: diagnosis and treatment.
[7] Ledermann JA, et al. (2019). PARP inhibitors in the treatment of ovarian cancer. Journal of Clinical Oncology.
[8] Food and Drug Administration. (2021). Olaparib.
[9] Ledermann JA, et al. (2018). Olaparib in patients with deleterious BRCA mutations and advanced ovarian cancer. New England Journal of Medicine.
- Science has made a significant breakthrough in the realm of testing, specifically HRD (homologous recombination deficiency) testing, which is particularly beneficial for individuals diagnosed with ovarian cancer.
- HRD testing primarily focuses on ovarian cancer, aiming to detect defects in the homologous recombination DNA repair pathway.
- These defects can be caused by mutations in BRCA1 and BRCA2 genes, as well as other genomic features often referred to as "genomic scars" or "BRCAness."
- By identifying these defects, doctors can pinpoint patients who are most likely to benefit from targeted therapies such as PARP inhibitors like olaparib.
- HRD testing expands treatment options beyond germline mutations to include somatic mutations, making it increasingly recommended as part of genetic testing for all primary ovarian cancer patients.
- HRD status serves not only as a diagnostic tool but also as a predictive marker, guiding the use of PARP inhibitors and platinum-based therapies.
- In precision oncology, HRD testing helps stratify patients and improve treatment outcomes, and it is most established and impactful in managing ovarian cancer due to the high prevalence of homologous recombination defects in this disease.
- Early detection of ovarian cancer remains a challenge, and there is no single, reliable way to screen for it.
- Doctors may recommend diagnostic tests for individuals suspected of having ovarian cancer, including a rectovaginal pelvic exam, transvaginal ultrasound, and CA-125 blood test.
- After surgery to remove a tumor, doctors typically administer platinum-based chemotherapy (cisplatin or carboplatin) combined with taxane.
- In cases where a tumor is resistant to platinum-based chemotherapy, PARP inhibitors may offer an effective alternative treatment.
- Three FDA-approved PARP inhibitors - olaparib, rucaparib, and niraparib - are currently available for this purpose.
- People with BRCA and other HRD mutations who take PARP inhibitors have found 70-80% improvement in their outcomes and have lived for more than 5 years.
- This underscores the potential of HRD testing to revolutionise ovarian cancer treatment and improve the lives of countless individuals.
- Ovarian cancer is one of many conditions that science continues to study, with fields like environmental science and medical-conditions being essential in understanding its causes and developing treatments.
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