about
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriersGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskThe variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutationsComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingNo clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation CarriersCommon genetic variants and modification of penetrance of BRCA2-associated breast cancerCommon breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.Assessment of Topoisomerase II α status in breast cancer by quantitative PCR, gene expression microarrays, immunohistochemistry, and fluorescence in situ hybridization.Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer casesGenetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general populationAssessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.BRCA1 Alternative splicing landscape in breast tissue samples.Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriersIdentification of six new susceptibility loci for invasive epithelial ovarian cancer.An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersPathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.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.Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.Identification of four novel susceptibility loci for oestrogen receptor negative breast cancerBRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian CancersLow prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.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.Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.
P50
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P50
description
researcher ORCID ID = 0000-0002-8113-1410
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wetenschapper
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name
Miguel de la Hoya
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Miguel de la Hoya
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Miguel de la Hoya
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Miguel de la Hoya
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type
label
Miguel de la Hoya
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Miguel de la Hoya
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Miguel de la Hoya
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Miguel de la Hoya
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altLabel
de la Hoya M
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prefLabel
Miguel de la Hoya
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Miguel de la Hoya
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Miguel de la Hoya
@es
Miguel de la Hoya
@nl
P106
P21
P31
P496
0000-0002-8113-1410