Xenética en Cancro e Enfermidades Raras
Erasmus University Medical Center
Róterdam, HolandaPublicacións en colaboración con investigadores/as de Erasmus University Medical Center (48)
2023
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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074
2022
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Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score
Prostate cancer and prostatic diseases, Vol. 25, Núm. 4, pp. 755-761
2021
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Nature Communications, Vol. 12, Núm. 1
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Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer
Prostate Cancer and Prostatic Diseases, Vol. 24, Núm. 2, pp. 532-541
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Breast cancer risk genes - Association analysis in more than 113,000 women
New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439
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Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))
Nature communications
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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203
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Polygenic hazard score is associated with prostate cancer in multi-ethnic populations
Nature Communications, Vol. 12, Núm. 1
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Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0)
Nature Genetics
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nature Genetics, Vol. 53, Núm. 1, pp. 65-75
2020
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An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk
Nature Communications, Vol. 11, Núm. 1
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
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Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus
Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 6, pp. E002769
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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Nature Genetics, Vol. 52, Núm. 6, pp. 572-581
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Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan
Nature Communications, Vol. 11, Núm. 1
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The CHEK2 variant C.349A>G is associated with prostate cancer risk and carriers share a common ancestor
Cancers, Vol. 12, Núm. 11, pp. 1-17
2019
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Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Nature Communications, Vol. 10, Núm. 1
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Circulating metabolic biomarkers of screen-detected prostate cancer in the ProtecT study
Cancer Epidemiology Biomarkers and Prevention, Vol. 28, Núm. 1, pp. 208-216