Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

doi:10.1136/jmedgenet-2019-106519

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Article

Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

Journal of medical genetics - 1 Nov 2020

Buffet Alexandre, Calsina Bruna, Flores Shahida, Giraud Sophie, Lenglet Marion, Romanet Pauline, Deflorenne Elisa, Aller Javier, Bourdeau Isabelle, Bressac-de Paillerets Brigitte, Calatayud María, Dehais Caroline, De Mones Del Pujol Erwan, Elenkova Atanaska, Herman Philippe, Kamenický Peter, Lejeune Sophie, Sadoul Jean Louis, Barlier Anne, Richard Stephane, Favier Judith, Burnichon Nelly, Gardie Betty, Dahia Patricia L, Robledo Mercedes, Gimenez-Roqueplo Anne-Paule

Abstract excerpt

BACKGROUNDS: The incidence of germline mutations in the newly discovered cryptic exon (E1') of VHL gene in patients with von Hippel-Lindau (VHL) disease and in patients with paraganglioma or pheochromocytoma (PPGL) is not currently known. METHODS: We studied a large international multicentre cohort of 1167 patients with a previous negative genetic testing. Germline DNA from 75 patients with a single tumour of the...

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PMID: 31996412
DOI: 10.1136/jmedgenet-2019-106519
PMCID: PMC7387210

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