A new method for determining whether genetic variants in BRCA1 increase cancer risk
https://www.facingourrisk.org/XRAY/classifying-uncertain-variants
Full article: http://www.ncbi.nlm.nih.gov/pubmed/30209399
Ever since BRCA1 was discovered, researchers have been trying to understand which of the thousands of possible DNA changes in this gene increase cancer risk and which are harmless changes. A new study in Nature reports how a cutting-edge technology called “genome editing” may be used to classify changes—known as variants of uncertain significance-in BRCA1 as harmful or harmless. Once validated, this same technology may be used to classify variants in other genes. (9/29/18)
Questions To Ask Your Health Care Provider
- Should I see a genetics expert to help me better understand my genetic test results?
- I have a BRCA1 VUS; can this new study help reclassify this change to either harmful or harmless?
- I have a VUS in another gene? Can this test be used to reclassify a VUS in another gene?
- I have a VUS, can I participate in a research study to help scientists learn more about reclassifying variants?
Open Clinical Trials
The following clinical trials include genetic counseling and testing.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women ages 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT05562778: Chatbot to maximize hereditary cancer genetic risk assessment. Researchers are testing whether a mobile health platform, known as a "chatbot" can improve rates of genetic testing among Medicaid patients with an elevated risk having an inherited mutation.
- NCT05427240: eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eReach2). This study will look at the effectiveness of offering web-based options for pre/post-test genetic counseling to provide equal or improved timely uptake of genetic services and testing.
- NCT05694559: Connecting Black Families in Houston, Texas to Hereditary Cancer Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
About FORCE
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.