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Open AccessMale with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype.
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Open AccessCopy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
The contribution of germline copy number variants (CNVs) to risk of develo** cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analys...
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Open AccessPublisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Open AccessHomologous recombination DNA repair defects in PALB2-associated breast cancers
Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk of breast cancer development, consistent with the role of PALB2 in homologous recombination (...
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Open AccessClinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indicatio...
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Open AccessGenome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57
Transient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized by intrautering growth retardation and diabetes mellitus usually presenting within the first six weeks of life and res...
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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
Deborah Mackay and colleagues identify mutations in ZFP57, encoding a zinc-finger transcription factor, in families with transient neonatal diabetes and additional clinical features. Affected individuals have a v...
