Few at-risk relatives complete cascade genetic testing despite its potential public health impact.
@genox-veille.fr
@genox-veille.frFew at-risk relatives complete cascade genetic testing despite its potential public health impact.
@genox-veille.frMolecular diagnosis of 21-hydroxylase deficiency is complicated by the high homology between CYP21A2 and its pseudogene CYP21A1P.
@genox-veille.frThis study describes the diagnostic strategies of the second cohort of the US Undiagnosed Diseases Network (UDN, 24 May 2017 – 30 June 2023).
@genox-veille.frThis study included females surviving at least 5 years after a childhood cancer diagnosis, from the Childhood Cancer Survivor Study and the St.
@genox-veille.frLeukoencephalopathy with calcifications and cysts (LCC) is a rare ribosomopathy caused by biallelic SNORD118 variants, with no established treatment.
@genox-veille.frMSH3 and MLH3 are non-canonical mismatch repair genes that correct insertion-deletion errors. The study analysed about 12,000 colorectal cancer or multiple polyp cases and 460,000 controls, with tumour genome sequencing in 2,023 patients.
@genox-veille.frKEYLYNK-001 is a randomised, double-blind phase 3 trial conducted at 224 centres in 22 countries in patients with stage III-IV epithelial ovarian, primary peritoneal or fallopian tube cancer without a BRCA mutation.
@genox-veille.frAn international collaboration assembled 21 affected individuals carrying 18 rare heterozygous protein-altering ZNF536 variants, 15 of 18 being predicted loss-of-function alleles.
@genox-veille.frGlycogen storage disease type Ia is a rare, life-threatening inherited disorder of carbohydrate metabolism caused by biallelic pathogenic G6PC variants leading to glucose-6-phosphatase deficiency.