Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm

Clin Genet. 2019 Apr;95(4):532-533. doi: 10.1111/cge.13488. Epub 2018 Dec 26.

Authors

Miriam J Smith^{1

2}, Emma R Woodward^{1

2}, George J Burghel¹, Catherine Banks¹, Robert D Morgan³, Andrew J Wallace¹, Clare Turnbull⁴, D Gareth Evans^{1

2}

Affiliations

¹ Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
² Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
³ The Christie NHS Foundation Trust, Manchester, UK.
⁴ Public Health England, National Cancer Registration and Analysis Service, London, UK.

PMID: 30586678
DOI: 10.1111/cge.13488

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alleles
BRCA1 Protein / genetics*
Breast Neoplasms / diagnosis*
Breast Neoplasms / genetics*
Exons
Female
Genetic Association Studies
Genotype
Humans
Phenotype
RNA Splicing*

Substances

BRCA1 Protein
BRCA1 protein, human

Grants and funding