Publicacións en colaboración con investigadores/as de Lund University (30)

2021

  1. Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk

    Journal of the National Cancer Institute, Vol. 113, Núm. 3, pp. 329-337

2020

  1. Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230

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

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

  3. 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

  4. Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D

    Journal of the National Cancer Institute, Vol. 112, Núm. 12, pp. 1242-1250

  5. The spectrum of fancm protein truncating variants in European breast cancer cases

    Cancers, Vol. 12, Núm. 2

2019

  1. Erratum to: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia (Nature Communications, (2018), 9, 1, (1340), 10.1038/s41467-018-03178-z)

    Nature Communications

  2. Erratum to: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility (Nature Communications, (2017), 8, 1, (1892), 10.1038/s41467-017-00320-1)

    Nature Communications

  3. Erratum to: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma (Nature Communications, (2018), 9, 1, (3707), 10.1038/s41467-018-04989-w)

    Nature Communications

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

    Nature Communications, Vol. 10, Núm. 1

  5. Genome-wide association study of germline variants and breast cancer-specific mortality

    British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657

  6. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578

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

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

  8. 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

  9. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

  10. Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

    International Journal of Cancer, Vol. 145, Núm. 2, pp. 401-414

  11. 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 among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

    Cancer Research, Vol. 78, Núm. 18, pp. 5419-5430

  2. 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

  3. Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group

    JCO Precision Oncology, Vol. 2