Genetic testing for inherited mutations may be helpful for all people with advanced or metastatic cancer
Full article: https://ascopubs.org/doi/full/10.1200/JCO.20.03661
In a study of nearly 12,000 cancer patients with a variety of cancers, eight percent of participants with metastatic cancer had an inherited mutation in a cancer gene that qualified them for a targeted treatment approved by the FDA or for participation in a clinical trial. The majority of people with metastatic cancer were unaware that they had an inherited mutation, and had not receive gene-directed treatment to which their tumor may have responded. The study authors suggest that genetic testing for inherited mutations may be warranted for all patients with advanced or metastatic cancer. (posted 9/30/21)
The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have metastatic or advanced cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:
- Tumor testing found a mutation or another result that suggests you may have an inherited mutation linked to cancer.
- You have a blood relative who has tested positive for an inherited mutation.
- You have been diagnosed with breast, ovarian, pancreatic or prostate cancer.
- You had previous genetic testing prior to 2014 and your test was negative.
This list is not comprehensive; other cancers may also be hereditary. If you are uncertain if you meet the guidelines above and you are interested in or considering undergoing genetic testing, you should speak with a cancer genetics expert.
Questions To Ask Your Health Care Provider
- With my personal and family cancer history, should I consider genetic testing?
- What are the risks and benefits of genetic testing?
- How do I receive genetic counseling?
- I have been newly diagnosed with an inherited mutation in a cancer gene. What options or changes would you suggest for my cancer treatment?
- I have an inherited mutation in a cancer gene. What are my risks of different types of cancer given my mutation status?
Open Clinical Trials
The following studies involve genetic testing in people with advanced cancers:
The following are studies looking at treatment for people with advanced solid tumors.
- NCT02264678: Ascending Doses of Ceralasertib in Combination With Chemotherapy and/or Novel Anti Cancer Agents. This is a study of ceralasertib administered orally in combination with chemotherapy regimens and/or novel anti-cancer agents, to patients with advanced cancer.
- NCT02286687: Talazoparib in Treating Patients With Recurrent, Refractory, Advanced, or Metastatic Cancers and Alterations in the BRCA Genes. This phase II trial studies how well talazoparib works in treating patients with cancers that have returned after a period of improvement, do not respond to treatment, or have spread to other parts of the body, and have alterations in the breast cancer, early onset (BRCA) genes.
- NCT03162627: Selumetinib and Olaparib in Solid Tumors. The goal of Phase 1 of this clinical research study is to find a tolerable dose combination of selumetinib and olaparib that can be given to people with advanced or recurrent solid tumors.
- NCT04171700: A Study to Evaluate Rucaparib in Patients with Solid Tumors and with Deleterious Mutations in HRR Genes (LODESTAR). This study is looking at how well the PARP inhibitor rucaparib works in people with advanced solid tumors who have an inherited or a tumor mutation in any of these genes: BRCA1, BRCA2, PALB2, RAD51C, RAD51D, BARD1, BRIP1, NBN and others.
- NCT04267939: ATR Inhibitor Plus Niraparib Study in Advanced Solid Tumors and Ovarian Cancer. This study will look at how well how well people with advanced solid tumors respond to treatment with the targeted therapy BAY1895344 in combination with the PARP inhibitor niraparib.
- NCT04644068: Study of AZD5305 as Monotherapy and in Combination With Anti-cancer Agents in Patients With Advanced Solid Malignancies (PETRA). This research is designed to learn if treatment with a new PARP inhibitor, AZD5305, alone, or in combination with anti-cancer agents is safe, tolerable, and has anti-cancer activity in patients with advanced solid tumors.
- NCT04657068: Treatment with ATR Inhibitor for Advanced or Metastatic Solid Tumors. This study will look at how well a new oral targeted therapy known as an ATR inhibitor works on advanced or metastatic solid tumors with mutations in genes linked to DNA damage repair.
FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.