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Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Melinda Váradi, Nikolett T. Nagy, Henning Reis, Boris Alexander Hadaschik, Christian Niedworok, Orsolya Módos, +20 more
2citations -
CIP2A interacts with TopBP1 and is selectively essential for DNA damage-induced basal-like breast cancer tumorigenesis2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Anni Laine, Srikar Goud Nagelli, Caroline C. Farrington, Umar Butt, Anna N. Cvrljevic, Julia P. Vainonen, +17 more
2citations -
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 -
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 -
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 -
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 -
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 -
PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~200,000 patients2022 Research Square preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Daniele Giardiello, Maartje J. Hooning, Michael Hauptmann, Renske Keeman, Bernadette A. M. Heemskerk‐Gerritsen, CARL P. BLOMQVIST, +32 more
1citations -
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 , updates to tumour pathology and cancer incidences2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Andrew Lee, Nasim Mavaddat, Tim J. Carver, Stephanie Archer, Fiona Mary Walter, Marc D. Tischkowitz, +14 more
6citations -
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 -
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 -
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 -
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 -
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 -
Bringing onco-innovation to Europe’s healthcare systems: the unexploited potential of biomarker testing, real world evidence and the potential of Tumour Agnostics. The lesson from BRCA1/2 genetic testing2020 Preprints.org preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Denis Horgan, Gennaro Ciliberto, PierFranco Conte, Giuseppe Curigliano, Luis Miguel Seijo, Luis M. Montuenga, +40 more
1citations -
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 -
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival2023 Research Square preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anna Morra, Maartje A. C. Schreurs, Irene Louise Andrulis, Hoda Anton‐Culver, Annelie Augustinsson, Matthias W. Beckmann, +93 more
0citations -
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 -
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 -
Polygenic risk score-enhanced breast cancer screening: recommendations for European health systems 20252026 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Abdelrahman Taha, Eleonora Pascucci, J. Matt McCrary, Anke Katharina Bergmann, Antonella Cardone, Martina Cornelia Cornel, +11 more
0citations -
The NLRP1 inflammasome emerges as a promising therapeutic target and prognostic biomarker across multiple cancer types: A comprehensive pan-cancer analysis2024 Research Square preprint Biochemistry, Genetics and Molecular Biology Inflammasome and immune disorders Open access
Leila Habibipour, Mahboubeh Sadeghi, Alireza Raghibi, Amirhossein Mohajeri Khorasani, Pegah Mousavi, Nima Sanadgol
0citations
23 results