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Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status2024 BMC Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Yuwei Wang, Gwen M. H. E. Dackus, Efraim H. Rosenberg, Sten Cornelissen, Leonora W. de Boo, Annegien Broeks, +21 more
5citations -
A BRCA1 Coiled-Coil Domain Variant Disrupting PALB2 Interaction Promotes the Development of Mammary Tumors and Confers a Targetable Defect in Homologous Recombination Repair2021 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Emilia M. Pulver, Chirantani Mukherjee, Gerarda van de Kamp, Stefan J. Roobol, Magdalena B. Rother, Hanneke van der Gulden, +18 more
20citations -
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays2020 Clinical Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Peter Bouwman, Ingrid van der Heijden, Hanneke van der Gulden, Roebi de Bruijn, Merel E. Braspenning, Setareh Moghadasi, +3 more
39citations -
Finding novel vulnerabilities of hypomorphic BRCA1 alleles2026 Molecular Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Gois, Rosalie A. Kampen, Marta San Martín Alonso, +5 more
0citations -
Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study2021 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Delal Akdeniz, Mark van Barele, Bernadette A. M. Heemskerk‐Gerritsen, Ewout Willem Steyerberg, Michael Hauptmann, Irma van de Beek, +12 more
23citations -
EXO1 protects BRCA1-deficient cells against toxic DNA lesions2024 Molecular Cell article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access cited by 2 patents
Bert van de Kooij, Anne Schreuder, Raphael Pavani, Veronica Garzero, Sidrit Uruci, Tiemen J. Wendel, +13 more
44citations -
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, +78 more
147citations -
Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study2021 JNCI Journal of the National Cancer Institute article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marthe M. de Jonge, Cor Doede de Kroon, Denise J. Jenner, Jan Oosting, Joanne A. de Hullu, Marian J.E. Mourits, +12 more
94citations -
ZMYM2 restricts 53BP1 at DNA double-strand breaks to favor BRCA1 loading and homologous recombination2022 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Katja Apelt, Seong-Ok Lee, Hsin‐Ru Chan, Martijn S. Luijsterburg, Justin W. C. Leung, Kyle M. Miller
39citations -
Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies2026 BJC Reports article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Isaac Allen, Nancy Whish, Siddhartha Yadav, Nicholas James Boddicker, Caroline A. Drukker, Irma van de Beek, +8 more
0citations -
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 variant2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inge M. M. Lakeman, Alexandra J. van den Broek, Julien A M Vos, Daniel R. Barnes, Julian Adlard, Irene L. Andrulis, +91 more
37citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2025 Nature Communications article 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, +87 more
11citations -
Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Paulo C.M. Lyra, Samuel Brito, Michael J. Parsons, Chunling Hu, Thales C. Nepomuceno, Nam Phuong Nguyen, +31 more
0citations -
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer2022 Hereditary Cancer in Clinical Practice article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Beverley Speight, Ellen Colvin, E. D. Epurescu, James Drummond, Senno Verhoef, Mariana Buongermino Pereira, +2 more
7citations -
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, +37 more
101citations -
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 -
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 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