Conference: BRCA Conference, May 8-11, Montreal, Quebec, Canada.
Conference Highlight: New findings on low and moderate risk genes were presented. Sessions included presentations on quantifying risk, understanding mechanistic the effect of the variant, clinical implications, and outcomes in patients.
Conference Summary:
There were two topics that were interesting to hear about:
Utilization of genetic variants beyond BRCA1/2 in the clinic
This presentation asked clinicians if they had recommended changes to the patient or their families based on their genetic test results. It was demonstrated that 80% recommended changes among high risk genes, 60% among low risk and 63% for other types of variants.
Moderate risk genes
How do you decide if someone who is at moderate risk for cancer should undergo changes in their screening or opt for elective surgery? This is a hotly debated topic with differing approaches among clinicians and researchers. Mark Robson suggested that the best way to decide if an individual should change their behavior is if their risk is analogous to the risk where we recommend screening or surgery in the general population. For example, in the United States a women is recommended to have a mammography if her risk of breast cancer is over 20%. Therefore, a patient would need to have a risk of 20% to start screening. Thus, if she has a mutation that confers a risk of 2 times, then we calculate what her risk is based on age, family history and genetic information to see if it 20%.