Article
Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series.
Acta gastro-enterologica Belgica - 1 Jan 2000
Athanasiadis Dimitrios I, Athanasiadou Kleoniki I, Voulgaridou Aikaterini, Zafeiriou Dimitrios I, Kattamis Antonios, Christodoulou Dimitrios K, Papakonstantinou Evgenia
Abstract excerpt
PURPOSE: To present a case series of two fraternal twin girls who passed away from brain and colorectal cancers attributed to Constitutional Mismatch Repair Deficiency syndrome (CMMRD). A review of literature for CMMRD-related pediatric malignancies is also presented. METHODS: The two girls were diagnosed with cancer at the age of 11 and 13 respectively. The early onset of multiple malignancies in the family...
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