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Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicityTumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.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.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controlsReply to J. Moline et alBRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or AncestryPublisher Correction: Shared heritability and functional enrichment across six solid cancersAssociation of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and AggressivenessAssessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsLarge scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationFine-mapping of 150 breast cancer risk regions identifies 191 likely target genesThe spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countriesTowards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA reportGenome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
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description
onderzoeker
@nl
researcher ORCID ID = 0000-0003-3242-8477
@en
name
Michael Parsons
@ast
Michael Parsons
@en
Michael Parsons
@es
Michael Parsons
@nl
type
label
Michael Parsons
@ast
Michael Parsons
@en
Michael Parsons
@es
Michael Parsons
@nl
prefLabel
Michael Parsons
@ast
Michael Parsons
@en
Michael Parsons
@es
Michael Parsons
@nl
P106
P31
P496
0000-0003-3242-8477