about
Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemiaUse of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriersComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingGenome-wide association study identifies a common variant associated with risk of endometrial cancer.Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expressionA novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityEvidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.Dual-color fluorescence in situ hybridization reveals an association of chromosome 8q22 but not 8p21 imbalance with high grade invasive breast carcinoma.Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.Cytomegalovirus and Epstein-Barr virus in breast cancerGermline copy number variants are not associated with globally acquired copy number changes in familial breast tumours.Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.Translating colorectal cancer genetics into clinically useful biomarkers.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Cytokeratin KRT8/18 expression differentiates distinct subtypes of grade 3 invasive ductal carcinoma of the breast.Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.Phosphohistone H3 outperforms Ki67 as a marker of outcome for breast cancer patients.Association of chromosome band 8q22 copy number gain with high grade invasive breast carcinomas by assessment of core needle biopsiesTargeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genesTranslocation (2;14) associated with complex rearrangements of the Ig heavy chain in non-Hodgkin lymphoma
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description
hulumtues
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հետազոտող
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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Logan C. Walker
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P106
P1153
8772823400
P21
P31
P496
0000-0003-0018-3719