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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 -
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 -
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 -
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance2025 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Maria Zanti, Fonnet E. Bleeker, Marinus J. Blok, Merel E. Braspenning, Marta Černá, +16 more
1citations -
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: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA22020 Genetics in Medicine erratum Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Romy L.S. Mesman, Fabienne M.G.R. Calléja, Miguel de la Hoya, Peter Devilee, Christi J. van Asperen, Harry Vrieling, +1 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 -
Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study
Elizabeth Kathryn Bancroft, Elizabeth C. Page, Jana Kathlyn McHugh, Sarah Thomas, Natalie Taylor, Jennifer Pope, +93 more
8citations -
Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study2022 PLoS ONE article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Bernadette A. M. Heemskerk‐Gerritsen, Antoinette Hollestelle, Christi J. van Asperen, Irma van de Beek, Willemien J. van Driel, Klaartje van Engelen, +6 more
8citations -
Abstract 7325: Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project2024 Cancer Research conference-abstract Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Paulo Cilas Morais Lyra Junior, Lucas Dalcolmo, Michael T. Parsons, Thales C. Nepomuceno, Samuel Gomes Brito, Nam Phuong N. Nguyen, +26 more
1citations -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuño, Anna González‐Neira, +90 more
60citations -
The impact of coding germline variants on contralateral breast cancer risk and survival2023 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anna Morra, Nasim Mavaddat, Taru Muranen, Thomas U. Ahearn, Jamie Allen, Irene Louise Andrulis, +90 more
28citations -
High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors2023 Journal of Clinical Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Denise J. Stommel-Jenner, Marise M. Wagner, Helena C. van Doorn, +15 more
15citations -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2023 npj Breast Cancer article 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, +61 more
7citations -
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 -
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 -
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 -
Salpingectomy With Delayed Oophorectomy Versus Salpingo‐Oophorectomy in BRCA1/2 Carriers: Three‐Year Outcomes of a Prospective Preference Trial2025 BJOG An International Journal of Obstetrics & Gynaecology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Majke H.D. van Bommel, Miranda P. Steenbeek, Joanna IntHout, Tessa Van Garderen, Marline G. Harmsen, Angela H.E.M. Maas, +16 more
17citations -
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers2024 Journal of Medical Genetics article 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
16citations -
Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer2025 British Journal of Urology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Wouter Koole, R. Jeroen A. van Moorselaar, Eveline M. A. Bleiker, Ellen van de Geer, Hanneke W. M. van Deutekom, +11 more
3citations -
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes2022 JAMA Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Nasim Mavaddat, Leila Dorling, Jamie Allen, Anna González‐Neira, Renske Keeman, Manjeet K. Bolla, +85 more
171citations -
Association of Salpingectomy With Delayed Oophorectomy Versus Salpingo-oophorectomy With Quality of Life in BRCA1/2 Pathogenic Variant Carriers2021 JAMA Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Miranda P. Steenbeek, Marline G. Harmsen, Angela H.E.M. Maas, Judith B. Prins, Johan Bulten, Steven Teerenstra, +17 more
85citations