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BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining2020 Nature Communications article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access cited by 1 patent
Juliette A. Kamp, Robin van Schendel, Ivar W. Dilweg, Marcel Tijsterman
65citations -
Sister chromatid exchanges induced by perturbed replication can form independently of BRCA1, BRCA2 and RAD512022 Nature Communications article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Anne Margriet Heijink, Colin Stok, David Porubskỳ, Eleni Maria Manolika, Jurrian K. de Kanter, Yannick P. Kok, +13 more
47citations -
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA22023 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Hongyan Li, Joe Dennis, Kristiina Aittomäkkiki, +93 more
8citations -
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Windy Berkofsky‐Fessler, Sandrine M. Caputo, +36 more
6citations -
Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution2025 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Venda Mangkusaputra, A.G. Murachelli, Zhengzhou Yu, Roberta Menafra, Anne Schreuder, Susan L. Kloet, +2 more
3citations -
A Comprehensive and Accessible Model for Co-Segregation Analysis in BRCA1, BRCA2 , and PALB2 Variant Classification2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar Rodríguez‐Girondo
1citations -
A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification2026 Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar D M Rodríguez-Girondo
0citations -
Individualised progesterone receptor modulator prevention strategies for triple-negative breast cancer in BRCA1 pathogenic variant carriers2026 npj Breast Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Martin Widschwendter, Rita Schmutzler, Nora Pashayan, Jelle Wesseling, Marc D. Tischkowitz, Michal Zikan, +22 more
0citations -
Breast Density Changes after Risk-Reducing Salpingo-oophorectomy in Women with a Pathogenic Germline Variant in BRCA1 or BRCA22025 Cancer Epidemiology Biomarkers & Prevention article Medicine Digital Radiography and Breast Imaging Open access
Elizabeth A. Loehrer, Frederieke H. van der Baan, Thea M. Mooij, Nadine Andrieu, Antonis C. Antoniou, Monique D. Dorrius, +12 more
0citations -
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi, +55 more
32citations -
Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation2023 JNCI Journal of the National Cancer Institute article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mark van Barele, Delal Akdeniz, Bernadette A. M. Heemskerk‐Gerritsen, Nadine Andrieu, Catherine Noguès, Christi J. van Asperen, +28 more
11citations -
SMAD4 depletion enhances NHEJ by regulating BRCA1 expression through ARIH1 in pancreatic cancer2025 Acta Pharmaceutica Sinica B article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Yiran Song, Yazhi He, Yang Wang, Liwei An, Yang Shi, Yingqun Zhou, +2 more
4citations -
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil M. Canson, +55 more
4citations -
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurélie Drouet, Melanie Girardi, María Concepción Alonso‐Cerezo, +27 more
0citations -
JAK2V617F-positive clonal hematopoiesis in germline BRCA1 versus BRCA2 mutation carriers2026 RWTH Publications (RWTH Aachen) article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
María Jimena Rodriguez, Jan Hauke, Mohamad Kayali, Julian Baumeister, Marcelo AS de Toledo, Christoph Engel, +10 more
0citations -
Correction: A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification2026 Human Genetics erratum Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar Rodríguez‐Girondo
0citations