Xenética en Cancro e Enfermidades Raras
Oslo University Hospital
Oslo, NoruegaPublicacións en colaboración con investigadores/as de Oslo University Hospital (42)
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
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Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206
2022
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944
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First international workshop of the ATM and cancer risk group (4-5 December 2019)
Familial Cancer, Vol. 21, Núm. 2, pp. 211-227
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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
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Genetics in Medicine, Vol. 24, Núm. 1, pp. 119-129
2021
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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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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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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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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