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Article

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Journal of medical genetics - 1 Nov 2015

Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine M P, Leroux D, Couillault G, Leverger G, Fricker J P, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L

Abstract excerpt

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. METHODS: Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, treatment and outcome of the malignancies and biological...

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Source

Identifiers

PMID: 26318770
DOI: 10.1136/jmedgenet-2015-103299

Genes

MLH1
MSH2
MSH6
PMS2

Provenance

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