A Unique Case of Rectal Cancer with Coexistence of Multiple Pathways of Carcinogenesis

Background: Colorectal cancer with a global incidence of 10% has multiple pathways implicated in its carcinogenesis. WNT signalling is the principal underlying pathway via APC gene, while defective mismatch repair genes and epigenetic changes also have proven contribution. Case presentation Here we present an unusual case of rectal adenocarcinoma in a 66 year old woman, with germline MSH6 and PMS1 mutations, and also simultaneous somatic APC and TP53 mutations. Conclusions: : The case is unique suggesting a possible interaction between the two pathways and contributing to carcinogenesis in this patient. This also suggests need for a thorough germline and somatic mutation evaluation in colorectal cancers.