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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 -
BRCA2-HSF2BP oligomeric ring disassembly by BRME1 promotes homologous recombination2023 Science Advances article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Rania Ghouil, Simona M. Miron, Koichi Sato, Dejan Ristić, Sari E. van Rossum-Fikkert, Pierre Legrand, +9 more
2citations -
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 -
The supplemental value of mammographic screening over breast MRI alone in BRCA2 mutation carriers2020 Breast Cancer Research and Treatment article Medicine Digital Radiography and Breast Imaging Open access
Inge-Marie Obdeijn, Ritse M. Mann, Claudette E. Loo, Marc B. I. Lobbes, Eleonora M. C. Voormolen, Carolien H. M. van Deurzen, +2 more
14citations -
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 -
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 -
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 -
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA22020 Genetics in Medicine article 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
40citations -
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 -
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 -
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach2022 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mads Thomassen, Romy L.S. Mesman, Thomas van Overeem Hansen, Mireia Menéndez, Maria Rossing, Ada Esteban‐Sánchez, +43 more
9citations -
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 -
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 -
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 122020 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Laëtitia Meulemans, Romy L.S. Mesman, Sandrine M. Caputo, Sophie E. Krieger, Marine Guillaud-Bataille, Virginie Caux‐Moncoutier, +25 more
34citations -
Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non‐high‐grade serous ovarian carcinomas2023 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Claire J.H. Kramer, Lieke Lanjouw, Dina Ruano, Arja ter Elst, Giacomo Santandrea, Nienke Solleveld‐Westerink, +13 more
8citations -
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 -
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
7citations