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Finding novel vulnerabilities of hypomorphic BRCA1 alleles2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anne Schreuder, Klaas de Lint, Mariana M. Gois, Rosalie A. Kampen, Marta San Martín Alonso, Ilse Nootenboom, +3 more
0citations -
EXO1-mediated DNA repair by single-strand annealing is essential for BRCA1-deficient cells2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Bert van de Kooij, A. Schreuder, Raphael Pavani, Veronica Garzero, Arne van Hoeck, Marta San Martín Alonso, +7 more
4citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +91 more
3citations -
Analysis of BRCA1 , BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes2025 medRxiv preprint 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, +54 more
1citations -
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 -
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 -
EZH2 Inhibition Sensitizes BRCA1-Deficient Breast Cancer to Synthetic Lethal Therapy with ATM Inhibitors2021 Research Square preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leonie Ratz, Chiara Svetlana Brambillasca, Leandra Bartke, Marieke van de Ven, Natalie Proost, Bjørn Siteur, +12 more
0citations -
S6K1 and S6K2 regulate homologous recombination DNA repair through control of BRCA1 protein stability2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms
Mariana Marcela Góis, Lais Bonafe, L O Silva, Mariana Camargo Silva Mancini, Rosalie A. Kampen, Isadora Carolina Betim Pavan, +4 more
0citations -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leila Dorling, Jamie Allen, Michael T. Parsons, Cristina Fortuño, Anna González‐Neira, Stephan Heijl, +89 more
5citations -
BRCA1/BARD1 ubiquitinates PCNA in unperturbed conditions to promote replication fork stability and continuous DNA synthesis2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Daniel Salas‐Lloret, Néstor García‐Rodríguez, Lisanne Giebel, Arnoud de Ru, Peter A. van Veelen, Pablo Huertas, +2 more
4citations -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2022 Research Square preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Taru Muranen, Anna Morra, Sofia Khan, Daniel R. Barnes, Manjeet K. Bolla, Joe Dennis, +62 more
0citations -
Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk2020 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Eileen Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K.H. Aben, +86 more
3citations -
Germline genetic contribution to the immune landscape of cancer2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Rosalyn W. Sayaman, Mohamad Saad, Vésteinn Thórsson, Wouter Hendrickx, Jessica P Roelands, Younes Mokrab, +18 more
21citations -
Chemo-phosphoproteomic profiling with ATR inhibitors berzosertib and gartisertib uncovers new biomarkers and DNA damage response regulators2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Rathan S Jadav, Florian Weiland, Sylvie M. Noordermeer, Thomas D. Carroll, Yuandi Gao, Jianming Wang, +12 more
1citations -
Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Naomi Wilcox, Martine Dumont, Anna González‐Neira, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, +45 more
1citations -
Validation of the BOADICEA Multifactorial Breast Cancer Risk Prediction Model in a Large Prospective Study2022 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Mikael Eriksson, Kamila Czene, Andrew Lee, Goska Leslie, Michael Luch, +9 more
2citations -
Validation of the BOADICEA Model in a Prospective Cohort of BRCA1/2 Pathogenic Variant Carriers2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Thea M. Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, +34 more
2citations -
Proteomic analysis identifies novel binding partners of BAP12021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ubiquitin and proteasome pathways Open access
Roy Baas, Fenna J. van der Wal, Onno B. Bleijerveld, Haico van Attikum, Titia K. Sixma
2citations -
Analysis of variants in untranslated and promoter regions and breast cancer risk using whole genome sequencing data2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Naomi Wilcox, Jonathan P. Tyrer, Leila Dorling, Joe Dennis, Marc Naven, Mustapha Abubakar, +47 more
1citations -
A missense variant effect map for the human tumour suppressor protein CHK22024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, Jochen Weile, Roujia Li, Michelle Gavac, +9 more
1citations -
Whole genome sequencing of endometrial cancer identifies novel subgroups, drivers, and actionable alterations2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Sebastian Meyer, Ben Kinnersley, Katarzyna Kedzierska, Ignacio Soriano, Eszter Lakatos, Claudia Arnedo-Pac, +26 more
0citations