Publications in collaboration with researchers from University of Münster (9)

2022

  1. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

    Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541

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

2020

  1. 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

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

    Nature Communications, Vol. 10, Núm. 1

  2. 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

2018

  1. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    Human Mutation, Vol. 39, Núm. 5, pp. 593-620

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2016

  1. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    Human Molecular Genetics, Vol. 25, Núm. 11, pp. 2256-2268