/mismatch repair cancer syndrome 1

mismatch repair cancer syndrome 1

Rare Disease

MONDO:0010159

Also Known As

BTP1 syndromeMLH1-related constitutional mismatch repair deficiency syndromeMMRCS1Turcot Syndromebrain tumor-polyposis syndrome 1mismatch repair cancer syndrome 1CNS tumors with familial polyposis of the colonCNS tumours with familial polyposis of the colonMMR deficiencyMMRCSTurcot syndromebrain tumor-polyposis syndromechildhood cancer syndromeglioma-polyposis syndromemalignant tumors of the central nervous system associated with familial polyposis of the colonmalignant tumours of the central nervous system associated with familial polyposis of the colonmismatch repair cancer syndromemismatch repair deficiency

Definition

An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.