Research Excellence Framework Open Access Meeting 30th April 2020

No abstract available

Guide to adding publications to PURE : Version 4, June 2023

A step by step guide for GCU researchers on how to add publications to PURE. Updated version to meet WCAG AA accessibility standard

PLOS Open Access Agreement: Guide for GCU Authors

This guide summarises the open access agreement with the open access publisher, PLOS. It shows GCU authors how to access the fee waiver for eligible articles. Updated version to meet WCAG AA accessibility standard

Document upload agreement for Pure

Document upload agreement for Pur

Guide to adding publications to PURE.

A step by step guide for GCU researchers on how to add publications to PURE

Three steps to open access.

A short guide to open access compliance

ResearchOnline takedown policy

ResearchOnline takedown polic

The GCU copyright advisor 2nd edition: text documents and workflows.

Original text documents and workflows for the draft version which covers all item types

The GCU copyright advisor: text documents and workflows.

Original text documents and workflows for the draft version which covers all item types

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Although the spliceogenic nature of the BRCA2 c.68-7T>A variant has been demonstrated, its association with cancer risk remains ontroversial. In this study, we accurately quantified by real-time PCR and digital PCR the BRCA2 isoforms retaining or missing exon 3. In addition, the combined odds ratio for causality of the variant was estimated using genetic and clinical data, and its associated cancer risk was estimated by case-control analysis in 83,636 individuals. Co-occurrence in trans with pathogenic BRCA2 variants was assessed in 5,382 families. Exon 3 exclusion rate was 4.5-fold higher in variant carriers (13%) than controls (3%), indicating an exclusion rate for the c.68-7T>A allele of approximately 20%. The posterior probability of pathogenicity was 7.44 x 10-115. There was neither evidence for increased risk of breast cancer (OR 1.03; 95% CI 0.86-1.24), nor for a deleterious effect of the variant when co-occurring with pathogenic variants. Our data provide for the first time robust evidence of the non-pathogenicity of the BRCA2 c.68-7T>A. Genetic and quantitative transcript analyses together inform the threshold for the ratio between functional and altered BRCA2 isoforms compatible with normal cell function. These findings might be exploited to assess the relevance for cancer risk of other BRCA2 spliceogenic variants