Genetics
Under the name "constitutional mismatch repair-deficiency" (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2. Although these are the same genes mutated in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, the mutations are biallelic in CMMR-D.
The term "childhood cancer syndrome" has also been proposed.
Café-au-lait macules have been observed.
Read more about this topic: Mismatch Repair Cancer Syndrome