Publicacións en colaboración con investigadores/as de Fondazione IRCCS Istituto Nazionale dei Tumori (15)

2023

  1. Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer

    Radiotherapy and Oncology, Vol. 187

  2. Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types

    JNCI Cancer Spectrum, Vol. 7, Núm. 6

2022

  1. Treatment time and circadian genotype interact to influence radiotherapy side-effects. A prospective European validation study using the REQUITE cohort

    eBioMedicine, Vol. 84

2021

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

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

  2. Development of a method for generating SNP interaction-aware polygenic risk scores for radiotherapy toxicity

    Radiotherapy and Oncology, Vol. 159, pp. 241-248

  3. 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

2020

  1. A Deep Learning Approach Validates Genetic Risk Factors for Late Toxicity After Prostate Cancer Radiotherapy in a REQUITE Multi-National Cohort

    Frontiers in Oncology, Vol. 10

  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 of acute radiation toxicity and quality of life in breast cancer patients – results from the REQUITE cohort study

    European Journal of Cancer, Vol. 138, pp. S12

2019

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

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

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

2014

  1. Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing

    Clinical Chemistry, Vol. 60, Núm. 2, pp. 341-352

2013

  1. Evaluation of a 5-Tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines

    Human Mutation, Vol. 34, Núm. 10, pp. 1424-1431