Publicacións en colaboración con investigadores/as de Maastricht University Medical Centre (27)

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. Comparison of prone and supine positioning for breast cancer radiotherapy using REQUITE data: dosimetry, acute and two years physician and patient-reported outcomes

    Acta Oncologica, Vol. 62, Núm. 9, pp. 1036-1044

  3. Contouring variation affects estimates of normal tissue complication probability for breast fibrosis after radiotherapy

    Breast, Vol. 72

2022

  1. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

    Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944

  2. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  3. No Association Between Polygenic Risk Scores for Cancer and Development of Radiation Therapy Toxicity

    International Journal of Radiation Oncology Biology Physics, Vol. 114, Núm. 3, pp. 494-501

  4. Overview of health-related quality of life and toxicity of non-small cell lung cancer patients receiving curative-intent radiotherapy in a real-life setting (the REQUITE study)

    Lung Cancer, Vol. 166, pp. 228-241

  5. The correlation between pre-treatment symptoms, acute and late toxicity and patient-reported health-related quality of life in non-small cell lung cancer patients: Results of the REQUITE study: Symptoms, toxicity and quality of life of lung cancer patients

    Radiotherapy and Oncology, Vol. 176, pp. 127-137

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

    eBioMedicine, Vol. 84

  7. Use of angiotensin converting enzyme inhibitors is associated with reduced risk of late bladder toxicity following radiotherapy for prostate cancer

    Radiotherapy and Oncology, Vol. 168, pp. 75-82

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. A data science approach for early-stage prediction of Patient's susceptibility to acute side effects of advanced radiotherapy

    Computers in Biology and Medicine, Vol. 135

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

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

  4. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

    Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737

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. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Genetics in Medicine, Vol. 22, Núm. 10, pp. 1653-1666

2019

  1. 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

  2. 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

  3. REQUITE: A prospective multicentre cohort study of patients undergoing radiotherapy for breast, lung or prostate cancer

    Radiotherapy and Oncology, Vol. 138, pp. 59-67

  4. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1