Genetic Clinical Updates

We will update this section of our website regularly with significant genetic updates that could impact your care moving forward. You can also always call and check in with our genetics team at any point to see if there are updates that are relevant to you.

As of 10/22/2024 –

Here are some of the major updates in the last 5 years that impact cancer risks and management recommendations for mutation carriers.  If any of these apply to you, please reach out to our genetics team and we can review the updated risks and recommendations in detail and provide next steps for screening / management. 

• PALB2 gene mutation carriers are now considered to have an increased risk for ovarian cancer (3-5%) with NCCN recommendations for consideration of risk-reducing surgery to remove ovaries for cancer prevention starting at age 45-50.
• New data suggests that CHEK2 mutations and single MUTYH mutations are no longer associated with colorectal cancer risk as previously thought. Based on this, NCCN has dropped elevated colon cancer screening recommendations.  For CHEK2 mutation carriers and single MUTYH mutation carriers colon cancer screening is now general population unless you have a family history of colon cancer that warrants elevated screening.
• New data has suggested CDH1 mutation carriers now have a lower risk of gastric cancer than previously described. 
• Upon further research several “newly described” breast cancer genes are no longer thought to significantly impact breast cancer risk. These genes include MRE11, FANCC, and NBN.
• More data has emerged regarding risk of a second breast cancer in women with BRCA1/2, PALB2, ATM, and CHEK2 mutations.
• Pancreatic cancer screening considerations have been updated to include ATM and BRCA2 mutation carriers even without a family history of pancreatic cancer.