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Mismatch repair cancer syndrome 1

MONDO:0010159

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.

Also known as: BTP1 syndrome, MLH1-related constitutional mismatch repair deficiency syndrome, MMRCS1, Turcot Syndrome, brain tumor-polyposis syndrome 1, mismatch repair cancer syndrome 1, CNS tumors with familial polyposis of the colon, CNS tumours with familial polyposis of the colon

65 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Inherited disease susceptibility (79) Hereditary neoplastic syndrome (59) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) DNA repair disease (13)
Trials to join now! 26 Not yet recruiting 9 Not yet finished but already full! 23 Completed 7
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