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

Buffet, Alexandre; Calsina, Bruna; K. Flores, Shahida; Giraud, Sophie; Lenglet, Marion; Romanet, Pauline; Deflorenne, Elisa; Aller, Javier; Bourdeau, Isabelle; Bressac–de Paillerets, Brigitte; Calatayud, María; Dehais, Caroline; de Monès del Pujol, Erwan; Еленкова, Атанаска; Herman, Philippe; Kamenický, Peter; Lejeune, Sophie; Louis Sadoul, Jean; Barlier, Anne; Richard, Stephane; Favier, Judith; Burnichon, Nelly; Gardie, Betty; L. M. Dahia, Patricia; Robledo, Mercedes; Gimenez‐Roqueplo, Anne‐Paule

doi:10.1136/jmedgenet-2019-106519

Public

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

Published in Journal of Medical Genetics • Jan 29, 2020

Authors:

Alexandre Buffet

Bruna Calsina

Shahida K. Flores

Abstract

BACKGROUNDS: 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 patien...

Subject

Von Hippel–Lindau disease

Germline mutation

Cohort

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