Publications by the researcher in collaboration with S. Bojesen (21)

2023

  1. 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

  2. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074

2021

  1. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Nature Communications, Vol. 12, Núm. 1

  2. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  3. 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

  4. 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

  5. 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

  6. 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

  1. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

  2. 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

2019

  1. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    Nature Communications, Vol. 10, Núm. 1

  2. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

    American Journal of Human Genetics, Vol. 104, Núm. 1, pp. 21-34

  3. Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

    Nature Communications

  4. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

  5. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

    Nature Genetics, Vol. 50, Núm. 7, pp. 968-978

2017

  1. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

  2. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

  3. The oncoarray consortium: A network for understanding the genetic architecture of common cancers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 26, Núm. 1, pp. 126-135

2016

  1. 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

    Human Molecular Genetics, Vol. 25, Núm. 11, pp. 2256-2268