Publicacións en colaboración con investigadores/as de Hospital Universitario Puerta de Hierro (24)

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

2022

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

    Breast Cancer Research, Vol. 24, Núm. 1

  2. Incorporating progesterone receptor expression into the PREDICT breast prognostic model

    European Journal of Cancer, Vol. 173, pp. 178-193

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

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

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. 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

  5. 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

  6. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

    Scientific Reports, Vol. 11, Núm. 1

  7. Mendelian randomisation study of smoking exposure in relation to breast cancer risk

    British Journal of Cancer, Vol. 125, Núm. 8, pp. 1135-1145

2020

  1. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

    American Journal of Human Genetics, Vol. 107, Núm. 5, pp. 837-848

  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. Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

    Scientific reports, Vol. 10, Núm. 1, pp. 9688

  5. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

    Genetic Epidemiology, Vol. 44, Núm. 5, pp. 442-468

2019

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

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

  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