Constitutional mismatch repair deficiency syndrome

Also known as: CMMRD; Turcot syndrome type 1

Biallelic mismatch repair mutations with childhood cancers.

Medical specialty: Oncology
Subspecialty: Oncology / Hereditary cancer syndromes
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: MLH1, MSH2, MSH6, PMS2

Etiology & mechanism

Biallelic MMR gene loss.

Gene(s) involved (4)

MLH1MSH2MSH6PMS2

Symptoms & signs (5)

café-au-lait maculeschildhood brain tumorscolorectal cancerleukemialymphoma

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