Breast and colorectal cancer risk in monoallelic MUTYH carriers ascertained via multigene panel testing
No association was found between female BC and carrier status of any MUTYH mutation (OR=1.0), p.G396D alone (OR=0.9), p.Y179C alone (OR=0.9) or both founder mutations combined (OR=0.9) after controlling for personal and family history of CRC and carrier status of mutations in other genes.
Similarly, no association was found between CRC and carrier status of any MUTYH mutation (OR=1.1), p.G396D alone (OR=1.2), p.Y179C alone (OR=0.7) or both founder mutations combined (OR=1.1) after controlling for personal and family history of female BC and carrier status of mutations in other genes.
To the authors’ knowledge, this is the largest BC cohort used to assess BC risks among MUTYH monoallelic carriers and the first study to assess cancer association in MUTYH carriers identified on MGPT.
Authors: Kelly Fulk; Holly LaDuca; Carin Espenschied; Dajun Qian; Yuan Tian; Amal Yussuf; Kory Jasperson