Overview

There is a strong interest from members of the community for more research to better clarify cancer risk with different mutations. Even for BRCA1 and BRCA2 mutations, which have been studied for over 20 years, risk assessment is not as accurate as people wish. This is even more apparent with newly identified mutations such as PALB2 and CHEK2 among others. 

ABOUT has received several research questions submitted by community members around the following themes related to risk assessment:

• Need for more precise lifetime and age-specific cancer risk statistics
• Need for more clarity around types of cancers associated with each mutation
• Need for more research around how other modifiers affect gene mutation express, including
  • how specific type or location of mutation within a gene affects cancer risk
  • environmental exposures
  • lifestyle and reproductive choices
• Why do some relatives with the exact same mutation and environment have different cancer rates?

Prioritization Score

This question has not yet gone through GAP Tools prioritization process. 

Feasibility Score

This question has not yet gone through GAP Tools feasibility scoring process. 

Next Steps

References