A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer
Open Access
- 1 August 2018
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 103 (2), 213-220
- https://doi.org/10.1016/j.ajhg.2018.07.002
Abstract
No abstract availableKeywords
Funding Information
- Prevent Breast Cancer (GA 12-006, GA 15-002)
- Manchester NIHR Biomedical Research Centre (IS-BRC-1215-20007)
- NIHR (NF-SI-0513-10076)
- Health Education England Genomics Education Programme
This publication has 28 references indexed in Scilit:
- Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testingEuropean Journal of Human Genetics, 2016
- Gene-Panel Sequencing and the Prediction of Breast-Cancer RiskNew England Journal of Medicine, 2015
- Critical research gaps and translational priorities for the successful prevention and treatment of breast cancerBreast Cancer Research, 2013
- Cancer statistics, 2013CA: A Cancer Journal for Clinicians, 2013
- BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation–Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study GroupJournal of Clinical Oncology, 2012
- Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trialThe Lancet, 2010
- The Relative Contribution of Point Mutations and Genomic Rearrangements in BRCA1 and BRCA2 in High-Risk Breast Cancer FamiliesCancer Research, 2008
- Gene Silencing in Cancer in Association with Promoter HypermethylationNew England Journal of Medicine, 2003
- Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer casesBritish Journal of Cancer, 2000
- Aberrant methylation of the BRCA1 CpG island promoter is associated with decreased BRCA1 mRNA in sporadic breast cancer cellsOncogene, 1998