Article
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.
Familial cancer - 1 Oct 2023
Apellaniz-Ruiz Maria, Sabbaghian Nelly, Chong Anne-Laure, de Kock Leanne, Cetinkaya Semra, Bayramoğlu Elvan, Dinjens Winand N M, McCluggage W Glenn, Wagner Anja, Yilmaz Aslihan Arasli, Foulkes William D
Abstract excerpt
DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages. Germline pathogenic variants in DICER1 cause this condition. Detecting a variant of uncertain significance in DICER1 or finding uncommon phenotypes complicate the diagnosis and can negatively impact patient care. We present two unrelated patients...
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