Great to see the full version of our paper out!
www.nature.com/articles/s41...
We find germline MUTYH heterozygote mutations are associated with increased SBS18 across multiple cancer types, but increase risk specifically for CRC. We show this is due to haploinsufficiency rather than somatic LOH.
nature.com
Germline haploinsufficiency of MUTYH causes mutational signature SBS18 in multiple tumour types and specifically raises colorectal cancer risk - npj Precision Oncology
npj Precision Oncology - Germline haploinsufficiency of MUTYH causes mutational signature SBS18 in multiple tumour types and specifically raises colorectal cancer risk
