A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

Abstract excerpt

In a 14-year-old boy with polyposis and rectosigmoid carcinoma, we identified a novel POLE germline mutation, p.(Val411Leu), previously found as recurrent somatic mutation in 'ultramutated' sporadic cancers. This is the youngest reported cancer patient with polymerase proofreading-associated polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cancer Genomics and Diagnostics
• Share to Colorectal and Anal Carcinomas
• Share to Genetic factors in colorectal cancer