Results 11 to 20 of about 111,950 (304)

Limited Independent Follow-Up with Germline Testing of Variants Detected in BRCA1 and BRCA2 by Tumor-Only Sequencing [PDF]

open access: yesJournal of Immunotherapy and Precision Oncology
Introduction Genomic profiling is performed in patients with advanced or metastatic cancer, in order to direct cancer treatment, often sequencing tumor-only, without a matched germline comparator.
Carol J. Nowlen   +18 more
doaj   +1 more source

BRCA1 is a histone-H2A-specific ubiquitin ligase [PDF]

open access: yes, 2014
The RING domain proteins BRCA1 and BARD1 comprise a heterodimeric ubiquitin (E3) ligase that is required for the accumulation of ubiquitin conjugates at sites of DNA damage and for silencing at DNA satellite repeat regions. Despite its links to chromatin,
Donna L. Mallery   +15 more
core   +1 more source

Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers [PDF]

open access: yes, 2006
BackgroundThe MDM2 gene encodes a negative regulator of the p53 tumour suppressor protein. A single nucleotide polymorphism (SNP) in the MDM2 promoter (a T to G exchange at nucleotide 309) has been reported to produce accelerated tumour formation in ...
Johnson, Peter W.   +17 more
core   +2 more sources

Hypersensitivity of BRCA1 heterozygote lymphoblastoid cells to gamma radiation and PARP inhibitors [PDF]

open access: yes, 2013
This article is made available through the Brunel Open Access Publishing Fund. Copyright @ 2013 Bourton EC, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use ...
Bourton, EC   +5 more
core   +1 more source

BRCA1 and Transcription [PDF]

open access: yesCancer Biology & Therapy, 2004
The BRCA1 tumor suppressor gene is expressed in all mammalian cells. Within these cells, the BRCA1 protein product interacts with several seemingly distinct nuclear complexes. Proteins within these complexes are potential targets for the E3-ubiquitin ligase activity associated with BRCA1:BARD1 complexes.
openaire   +2 more sources

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers [PDF]

open access: yes, 2004
<p>Introduction: The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9–32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier ...
Antoniou, A.C.   +88 more
core   +3 more sources

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk [PDF]

open access: yes, 2013
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were
Side, Lucy E.,   +999 more
core   +4 more sources

Relationship between DNA damage response and telomere maintenance [PDF]

open access: yes, 2012
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Telomeres are regions of repetitive DNA bound with a set of specialized proteins required to protect chromosomes from fusing with each other and from ...
Ojani, Maryam
core   +7 more sources

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 [PDF]

open access: yes, 2011
The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by ...
Donaldson, A.   +999 more
core   +6 more sources

Olaparib Combined with an ATR or Chk1 Inhibitor as a Treatment Strategy for Acquired Olaparib-Resistant BRCA1 Mutant Ovarian Cells

open access: yesDiagnostics, 2020
Objective: Despite the promise of PARP inhibitors (PARPi) for treating BRCA1/2 mutated ovarian cancer (OC), drug resistance invariably develops. We hypothesized rationale drug combinations, targeting key molecules in DNA repair pathways and the cell ...
Brian T. Burgess   +5 more
doaj   +1 more source

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