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Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature.

The Turkish journal of pediatrics - 1 Jan 2021

Özyörük Derya, Cabı Emel Ünal, Taçyıldız Nurdan, Pınarlı Ferda, Erdoğan Ayşe Oğuz, Hanalioğlu Şahin, Erdem Arzu Yazal, Demir Arzu Meltem

Abstract excerpt

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children. CASE: Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations...

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Identifiers

PMID: 34738371
DOI: 10.24953/turkjped.2021.05.017

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