GENE TABLES EXPANDED
- New summary table to show you where to find your specific gene (GENE-A)
- Each gene has its own page (GENE-A (1-19))
- SMARCA4 added (GENE-A (16 of 19))
GENETIC TESTING
Testing may be appropriate for some individuals with a close family member who meets testing criteria but has not had genetic testing. This helps expand access to testing for families seeking answers (CRIT-2 & 6), while acknowledging that testing the affected family member is most informative (CRIT-2, 4, 6A, 7, & 8)
PRINCIPLES SECTION
- If you’ve had an allogeneic bone marrow or stem cell transplant, blood or saliva genetic testing may not accurately reflect your own inherited DNA because donor cells can affect results (EVAL-A (2 of 11))
- Research is promising, but experts currently recommend caution and do not support using polygenic risk scores (PRS) alone to guide medical management outside of clinical trials (EVAL-A (3 of 11))
- At-home, direct-to-consumer genetic tests can provide interesting information about your ancestry and health, but they are not designed to replace medical genetic testing. Results may be incomplete or inaccurate, so findings should be confirmed through a clinical lab before making healthcare decisions (EVAL-A (4 of 11))
- Added section of atypical risk pathogenic/likely pathogenic variants to highlight the importance of looking beyond the gene name alone and considering the specific variant and family history when assessing risk and discussing cancer screening and prevention options (EVAL-A (6 of 11))
- For negative results, added “eligibility for emerging therapies” as an indication for updated testing (EVAL-A (8 of 11)). Even if past genetic testing was negative, advances in cancer treatment may create new reasons to revisit testing. Updated genetic testing may help determine whether someone could benefit from newer targeted therapies, such as PARP inhibitors.
MANAGEMENT
- Added principles of breast cancer risk management (GENE-B (1-2)) & principles of ovarian cancer risk management (GENE-C (1-2))
- BRCA1/2 management update to indicate that there is limited data suggesting benefit from Tamoxifen, particularly for BRCA2 carriers (BRCA-A (1 of 5))
- Pancreatic cancer screening updated to reflect a strong family history may be enough for some people to qualify for screening, even if no inherited genetic mutation has been identified. New criteria has also been added to start screening at age 50-55 or earlier based on the youngest diagnosis in the family (PANC-A (2 of 2))
Whole-body MRI is an important screening tool for Li-Fraumeni Syndrome patients, but there is currently no single standardized way it is performed. Some areas of the body may not be fully included depending on the imaging protocol used (LIFR-A (4A of 6))
Released August 31st, 2026: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bopp.pdf