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Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction2020 Frontiers in Molecular Biosciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rick A.C.M. Boonen, Maaike P.G. Vreeswijk, Haico van Attikum
16citations -
Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants2021 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Lara Sanoguera‐Miralles, Víctor Lorca, Eugenia Fraile‐Bethencourt, Ada Esteban‐Sánchez, +10 more
24citations -
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Pei Sze Ng, Rick A.C.M. Boonen, Eldarina Wijaya, Chan‐Eng Chong, Milan Sharma, Sabine Knaup, +23 more
6citations -
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 -
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk2026 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rick A.C.M. Boonen, Sabine Knaup, Roberta Menafra, Merel E. Braspenning, Magdalena B. Rother, Petra Kleiblová, +55 more
1citations -
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 -
Data from A BRCA1 Coiled-Coil Domain Variant Disrupting PALB2 Interaction Promotes the Development of Mammary Tumors and Confers a Targetable Defect in Homologous Recombination Repair
Emilia M. Pulver, Chirantani Mukherjee, Gerarda van de Kamp, Stefan J. Roobol, Magdalena B. Rother, Hanneke van der Gulden, +18 more
0citations -
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 -
Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant2021 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anne Brédart, Antoine De Pauw, Amélie Anota, Anja Tüchler, Julia Dick, A. G. S. Muller, +6 more
11citations -
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 -
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 -
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 -
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 -
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls2023 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Maria A. Loizidou, Denise G O'Mahony, Leila Dorling, Joe Dennis, Peter Devilee, +4 more
2citations -
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C , RAD51D , BARD1 updates to tumour pathology and cancer incidence2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Andrew Lee, Nasim Mavaddat, Tim J. Carver, Lorenzo Ficorella, Stephanie Archer, Fiona Mary Walter, +15 more
74citations -
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 -
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 -
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 -
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 -
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 -
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 -
Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis2021 Gynecologic Oncology review Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Vera M. Witjes, Majke H.D. van Bommel, Marjolijn J. L. Ligtenberg, Janet R. Vos, Marian J.E. Mourits, Margreet G.E.M. Ausems, +2 more
44citations -
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inge M. M. Lakeman, Mar D M Rodríguez-Girondo, Andrew Lee, Nandi Celosse, Merel E. Braspenning, Klaartje van Engelen, +11 more
37citations -
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction2023 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anja Tüchler, Antoine De Pauw, Corinna Ernst, Amélie Anota, Inge M. M. Lakeman, Julia Dick, +19 more
21citations