Publicacións en colaboración con investigadores/as de Helsinki University Central Hospital (40)

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. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Genome Medicine, Vol. 15, Núm. 1

  3. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

    Cancer Medicine, Vol. 12, Núm. 15, pp. 16142-16162

  4. Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

    Journal of Clinical Oncology, Vol. 41, Núm. 10, pp. 1849-1863

  5. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)

    Nature Genetics

  6. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

    Nature Genetics, Vol. 55, Núm. 1, pp. 89-99

  7. PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

    npj Breast Cancer, Vol. 9, Núm. 1

2022

  1. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

    Genome Medicine, Vol. 14, Núm. 1

  2. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

    Breast Cancer Research, Vol. 24, Núm. 1

  3. Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes

    JAMA Oncology, Vol. 8, Núm. 3

  4. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

    British Journal of Sports Medicine, Vol. 56, Núm. 20, pp. 1157-1170

  5. Rare germline copy number variants (CNVs) and breast cancer risk

    Communications biology, Vol. 5, Núm. 1, pp. 65

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. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

    Breast cancer research : BCR, Vol. 23, Núm. 1, pp. 86

  3. Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium

    Cancer Epidemiology Biomarkers and Prevention, Vol. 30, Núm. 4, pp. 623-642

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

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

  5. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

    British Journal of Cancer, Vol. 124, Núm. 4, pp. 842-854

  6. Common Susceptibility Loci for Male Breast Cancer

    Journal of the National Cancer Institute, Vol. 113, Núm. 4, pp. 453-461

  7. 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

  8. 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