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1. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Author

Hakkaart, Christopher, Pearson, John F, Marquart, Louise, Dennis, Joe, Wiggins, George AR, Barnes, Daniel R, Robinson, Bridget A, Mace, Peter D, Aittomäki, Kristiina, Andrulis, Irene L, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Belhadj, Sami, Berger, Lieke, Blok, Marinus J, Boonen, Susanne E, Borde, Julika, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caligo, Maria A, Campbell, Ian, Chung, Wendy K, Claes, Kathleen BM, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J, Daly, Mary B, Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F, Ehrencrona, Hans, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A, Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hansen, Thomas VO, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L, Manoukian, Siranoush, Mari, Véronique, Martens, John WM, McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, and Montagna, Marco

Subjects
Human Genome, Prevention, Breast Cancer, Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Heterozygote, Humans, RNA, Messenger, GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators
Abstract

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.

Published
2022

2. Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study

Author

Bakhuizen, Jette J, van Dijk, Freerk, Koudijs, Marco J, Bladergroen, Reno S, Bon, Sebastian B B, Hopman, Saskia M J, Kester, Lennart A, Kranendonk, Mariëtte E G, Loeffen, Jan L C, Smetsers, Stephanie E, Sonneveld, Edwin, Tachdjian, Melissa, de Vos-Kerkhof, Evelien, Goudie, Catherine, Merks, Johannes H M, Kuiper, Roland P, and Jongmans, Marjolijn C J

Published
2024
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3. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author

Barnes, Daniel R, Rookus, Matti A, McGuffog, Lesley, Leslie, Goska, Mooij, Thea M, Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L, Arnold, Norbert, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M, Blok, Marinus J, Bonanni, Bernardo, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Bradbury, Angela R, Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K, Claes, Kathleen BM, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Cook, Jackie, Daly, Mary B, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Dorfling, Cecilia M, Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans BL, Hooning, Maartje J, Horvath, Judit, Hu, Chunling, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kast, Karin, Koudijs, Marco, Kruse, Torben A, Kwong, Ava, Laitman, Yael, Lasset, Christine, and Lazaro, Conxi

Subjects
Clinical Research, Cancer, Ovarian Cancer, Prevention, Rare Diseases, Breast Cancer, 2.1 Biological and endogenous factors, Aetiology, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Carcinoma, Ovarian Epithelial, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Mutation, Ovarian Neoplasms, Prospective Studies, Retrospective Studies, Risk Factors, BRCA1, 2, breast cancer, ovarian cancer, PRS, genetics, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, GENEPSO Investigators, Consortium of Investigators of Modifiers of BRCA and BRCA2, BRCA1/2, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

PurposeWe assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers.MethodsRetrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort.ResultsThe ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3×10-72). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7×10-50). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25-1.40], P = 3×10-22) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4×10-12) carriers. The associations in the prospective cohort were similar.ConclusionPopulation-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.

Published
2020

4. Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study

Author

Kemps, Paul G., Zondag, Timo C. E., Arnardóttir, Helga B., Solleveld-Westerink, Nienke, Borst, Jelske, Steenwijk, Eline C., van Egmond, Demi, Swennenhuis, Joost F., Stelloo, Ellen, Trambusti, Irene, Verdijk, Robert M., van Noesel, Carel J. M., Cleven, Arjen H. G., Scheijde-Vermeulen, Marijn A., Koudijs, Marco J., Krsková, Lenka, Hawkins, Cynthia, Egeler, R. Maarten, Brok, Jesper, von Bahr Greenwood, Tatiana, Svojgr, Karel, Beishuizen, Auke, van Laar, Jan A. M., Pötschger, Ulrike, Hutter, Caroline, Sieni, Elena, Minkov, Milen, Abla, Oussama, van Wezel, Tom, van den Bos, Cor, and van Halteren, Astrid G. S.

Published
2023
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8. Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey

Author

Genetica, Genetica Klinische Genetica, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Genetica Oper.Mang. Clinical Genetics, Child Health, Algemeen management, Cluster D, Integrale & Alg. Kindergen Patientenzorg, van der Smagt, Jasper J., Lampri, Angeliki P., de Lange, Iris, Alders, Mariëlle, Houben, Michiel L., Koudijs, Marco J., van Jaarsveld, Richard H., Genetica, Genetica Klinische Genetica, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Genetica Oper.Mang. Clinical Genetics, Child Health, Algemeen management, Cluster D, Integrale & Alg. Kindergen Patientenzorg, van der Smagt, Jasper J., Lampri, Angeliki P., de Lange, Iris, Alders, Mariëlle, Houben, Michiel L., Koudijs, Marco J., and van Jaarsveld, Richard H.

Published
2024

9. Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience

Author

Genetica Sectie Genoomdiagnostiek, Cancer, CTI Research, Infection & Immunity, Boer, Judith M., Ilan, Uri, Boeree, Aurélie, Langenberg, Karin P.S., Koster, Jan, Koudijs, Marco J., Hehir-Kwa, Jayne Y., Rossi, Corinne, Nierkens, Stefan, Molenaar, Jan J., Goemans, Bianca F., den Boer, Monique L., Zwaan, C. Michel, Genetica Sectie Genoomdiagnostiek, Cancer, CTI Research, Infection & Immunity, Boer, Judith M., Ilan, Uri, Boeree, Aurélie, Langenberg, Karin P.S., Koster, Jan, Koudijs, Marco J., Hehir-Kwa, Jayne Y., Rossi, Corinne, Nierkens, Stefan, Molenaar, Jan J., Goemans, Bianca F., den Boer, Monique L., and Zwaan, C. Michel

Published
2024

10. Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients:Dutch iTHER study experience

Author

Boer, Judith M., Ilan, Uri, Boeree, Aurélie, Langenberg, Karin P.S., Koster, Jan, Koudijs, Marco J., Hehir-Kwa, Jayne Y., Nierkens, Stefan, Rossi, Corinne, Molenaar, Jan J., Goemans, Bianca F., den Boer, Monique L., Zwaan, C. Michel, Boer, Judith M., Ilan, Uri, Boeree, Aurélie, Langenberg, Karin P.S., Koster, Jan, Koudijs, Marco J., Hehir-Kwa, Jayne Y., Nierkens, Stefan, Rossi, Corinne, Molenaar, Jan J., Goemans, Bianca F., den Boer, Monique L., and Zwaan, C. Michel

Abstract

Over the past 10 years, institutional and national molecular tumor boards have been implemented for relapsed or refractory pediatric cancer to prioritize targeted drugs for individualized treatment based on actionable oncogenic lesions, including the Dutch iTHER platform. Hematological malignancies form a minority in precision medicine studies. Here, we report on 56 iTHER leukemia/lymphoma patients for which we considered cell surface markers and oncogenic aberrations as actionable events, supplemented with ex vivo drug sensitivity for six patients. Prior to iTHER registration, 34% of the patients had received allogeneic hematopoietic cell transplantation (HCT) and 18% CAR-T therapy. For 51 patients (91%), a sample with sufficient tumor percentage (≥20%) required for comprehensive diagnostic testing was obtained. Up to 10 oncogenic actionable events were prioritized in 49/51 patients, and immunotherapy targets were identified in all profiled patients. Targeted treatment(s) based on the iTHER advice was given to 24 of 51 patients (47%), including immunotherapy in 17 patients, a targeted drug matching an oncogenic aberration in 12 patients, and a drug based on ex vivo drug sensitivity in one patient, resulting in objective responses and a bridge to HCT in the majority of the patients. In conclusion, comprehensive profiling of relapsed/refractory hematological malignancies showed multiple oncogenic and immunotherapy targets for a precision medicine approach, which requires multidisciplinary expertise to prioritize the best treatment options for this rare, heavily pretreated pediatric population.

Published
2024

14. Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program ‘iTHER’

Author

Langenberg, Karin P.S., Meister, Michael T., Bakhuizen, Jette J., Boer, Judith M., van Eijkelenburg, Natasha K.A., Hulleman, Esther, Ilan, Uri, Looze, Eleonora J., Dierselhuis, Miranda P., van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G., Ober, Kimberley, van Hooff, Sander R., Scheijde-Vermeulen, Marijn A., Hiemcke-Jiwa, Laura S., Flucke, Uta E., Kranendonk, Mariette E.G., Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T.P., Volckmann, Richard, Hehir-Kwa, Jayne Y., Kester, Lennart A., Koudijs, Marco M.J., Waanders, Esme, Holstege, Frank C.P., Vormoor, H. Josef, Hoving, Eelco W., van Noesel, Max M., Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P., Van Tilburg, Cornelis M., Jones, Barbara C., Jones, David T.W., Witt, Olaf, Pfister, Stefan M., Jongmans, Marjolijn C.J., Kuiper, Roland P., de Krijger, Ronald R., Wijnen, Marc H.W., den Boer, Monique L., Zwaan, C. Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B.J., Goemans, Bianca F., Molenaar, Jan J., Dep Scheikunde, Afd Pharmaceutics, Pharmaceutics, Dep Scheikunde, Afd Pharmaceutics, Pharmaceutics, Center of Experimental and Molecular Medicine, Oncogenomics, and CCA - Cancer Treatment and Quality of Life

Subjects
Cancer Research, Adolescent, Molecular biology, Precision medicine, High-Throughput Nucleotide Sequencing, Medical Oncology, Hereditary, Oncology, Neoplasms, Mutation, Exome Sequencing, Next-generation sequencing, Humans, Molecular targeted therapy, Prospective Studies, Child, Cancer
Abstract

iTHER is a Dutch prospective national precision oncology program aiming to define tumour molecular profiles in children and adolescents with primary very high-risk, relapsed, or refractory paediatric tumours. Between April 2017 and April 2021, 302 samples from 253 patients were included. Comprehensive molecular profiling including low-coverage whole genome sequencing (lcWGS), whole exome sequencing (WES), RNA sequencing (RNA-seq), Affymetrix, and/or 850k methylation profiling was successfully performed for 226 samples with at least 20% tumour content. Germline pathogenic variants were identified in 16% of patients (35/219), of which 22 variants were judged causative for a cancer predisposition syndrome. At least one somatic alteration was detected in 204 (90.3%), and 185 (81.9%) were considered druggable, with clinical priority very high (6.1%), high (21.3%), moderate (26.0%), intermediate (36.1%), and borderline (10.5%) priority. iTHER led to revision or refinement of diagnosis in 8 patients (3.5%). Temporal heterogeneity was observed in paired samples of 15 patients, indicating the value of sequential analyses. Of 137 patients with follow-up beyond twelve months, 21 molecularly matched treatments were applied in 19 patients (13.9%), with clinical benefit in few. Most relevant barriers to not applying targeted therapies included poor performance status, as well as limited access to drugs within clinical trial. iTHER demonstrates the feasibility of comprehensive molecular profiling across all ages, tumour types and stages in paediatric cancers, informing of diagnostic, prognostic, and targetable alterations as well as reportable germline variants. Therefore, WES and RNA-seq is nowadays standard clinical care at the Princess Máxima Center for all children with cancer, including patients at primary diagnosis. Improved access to innovative treatments within biology-driven combination trials is required to ultimately improve survival.

Published
2022
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15. Recurrent ETV3::NCOA2 fusions and MAPK pathway mutations in indeterminate dendritic cell histiocytosis

Author

Kemps, Paul G., Woei-A-Jin, F. J. Sherida H., Quint, Koen D., van den Bos, Cor, Naeije, Leonie, van Laar, Jan A. M., Vanden Bempt, Isabelle, Koudijs, Marco J., Vorderman, Ruben H. P., Stelloo, Ellen, Swennenhuis, Joost F., Bruggink, Annette H., Hebeda, Konnie M., Scheijde-Vermeulen, Marijn A., Diercks, Gilles F. H., Verdijk, Robert M., Jansen, Patty M., Hauben, Esther, Tousseyn, Thomas, Cleven, Arjen H. G., van Wezel, Tom, van Halteren, Astrid G. S., and Hogendoorn, Pancras C. W.

Published
2024
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16. Supplementary Materials and Methods from Diverse BRAF Gene Fusions Confer Resistance to EGFR-Targeted Therapy via Differential Modulation of BRAF Activity

Author

Stangl, Christina, primary, Post, Jasmin B., primary, van Roosmalen, Markus J., primary, Hami, Nizar, primary, Verlaan-Klink, Ingrid, primary, Vos, Harmjan R., primary, van Es, Robert M., primary, Koudijs, Marco J., primary, Voest, Emile E., primary, Snippert, Hugo J.G., primary, and Kloosterman, W.P., primary

Published
2023
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17. Supplementary Figures 1-11 from Diverse BRAF Gene Fusions Confer Resistance to EGFR-Targeted Therapy via Differential Modulation of BRAF Activity

Author

Stangl, Christina, primary, Post, Jasmin B., primary, van Roosmalen, Markus J., primary, Hami, Nizar, primary, Verlaan-Klink, Ingrid, primary, Vos, Harmjan R., primary, van Es, Robert M., primary, Koudijs, Marco J., primary, Voest, Emile E., primary, Snippert, Hugo J.G., primary, and Kloosterman, W.P., primary

Published
2023
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19. Supplementary Table 4 from Diverse BRAF Gene Fusions Confer Resistance to EGFR-Targeted Therapy via Differential Modulation of BRAF Activity

Author

Stangl, Christina, primary, Post, Jasmin B., primary, van Roosmalen, Markus J., primary, Hami, Nizar, primary, Verlaan-Klink, Ingrid, primary, Vos, Harmjan R., primary, van Es, Robert M., primary, Koudijs, Marco J., primary, Voest, Emile E., primary, Snippert, Hugo J.G., primary, and Kloosterman, W.P., primary

Published
2023
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20. Supplementary Figure Legends from Diverse BRAF Gene Fusions Confer Resistance to EGFR-Targeted Therapy via Differential Modulation of BRAF Activity

Author

Stangl, Christina, primary, Post, Jasmin B., primary, van Roosmalen, Markus J., primary, Hami, Nizar, primary, Verlaan-Klink, Ingrid, primary, Vos, Harmjan R., primary, van Es, Robert M., primary, Koudijs, Marco J., primary, Voest, Emile E., primary, Snippert, Hugo J.G., primary, and Kloosterman, W.P., primary

Published
2023
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21. Supplementary Table 2 from Diverse BRAF Gene Fusions Confer Resistance to EGFR-Targeted Therapy via Differential Modulation of BRAF Activity

Author

Stangl, Christina, primary, Post, Jasmin B., primary, van Roosmalen, Markus J., primary, Hami, Nizar, primary, Verlaan-Klink, Ingrid, primary, Vos, Harmjan R., primary, van Es, Robert M., primary, Koudijs, Marco J., primary, Voest, Emile E., primary, Snippert, Hugo J.G., primary, and Kloosterman, W.P., primary

Published
2023
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22. Supplementary Table 3 from Diverse BRAF Gene Fusions Confer Resistance to EGFR-Targeted Therapy via Differential Modulation of BRAF Activity

Author

Stangl, Christina, primary, Post, Jasmin B., primary, van Roosmalen, Markus J., primary, Hami, Nizar, primary, Verlaan-Klink, Ingrid, primary, Vos, Harmjan R., primary, van Es, Robert M., primary, Koudijs, Marco J., primary, Voest, Emile E., primary, Snippert, Hugo J.G., primary, and Kloosterman, W.P., primary

Published
2023
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23. Supplementary Table 1 from Diverse BRAF Gene Fusions Confer Resistance to EGFR-Targeted Therapy via Differential Modulation of BRAF Activity

Author

Stangl, Christina, primary, Post, Jasmin B., primary, van Roosmalen, Markus J., primary, Hami, Nizar, primary, Verlaan-Klink, Ingrid, primary, Vos, Harmjan R., primary, van Es, Robert M., primary, Koudijs, Marco J., primary, Voest, Emile E., primary, Snippert, Hugo J.G., primary, and Kloosterman, W.P., primary

Published
2023
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24. Clinicogenomic associations in childhood Langerhans cell histiocytosis:an international cohort study

Author

Kemps, Paul G., Zondag, Timo C.E., Arnardóttir, Helga B., Solleveld-Westerink, Nienke, Borst, Jelske, Steenwijk, Eline C., van Egmond, Demi, Swennenhuis, Joost F., Stelloo, Ellen, Trambusti, Irene, Verdijk, Robert M., van Noesel, Carel J.M., Cleven, Arjen H.G., Scheijde-Vermeulen, Marijn A., Koudijs, Marco J., Krsková, Lenka, Hawkins, Cynthia, Egeler, R. Maarten, Brok, Jesper, von Bahr Greenwood, Tatiana, Svojgr, Karel, Beishuizen, Auke, van Laar, Jan A.M., Pötschger, Ulrike, Hutter, Caroline, Sieni, Elena, Minkov, Milen, Abla, Oussama, van Wezel, Tom, van den Bos, Cor, van Halteren, Astrid G.S., Kemps, Paul G., Zondag, Timo C.E., Arnardóttir, Helga B., Solleveld-Westerink, Nienke, Borst, Jelske, Steenwijk, Eline C., van Egmond, Demi, Swennenhuis, Joost F., Stelloo, Ellen, Trambusti, Irene, Verdijk, Robert M., van Noesel, Carel J.M., Cleven, Arjen H.G., Scheijde-Vermeulen, Marijn A., Koudijs, Marco J., Krsková, Lenka, Hawkins, Cynthia, Egeler, R. Maarten, Brok, Jesper, von Bahr Greenwood, Tatiana, Svojgr, Karel, Beishuizen, Auke, van Laar, Jan A.M., Pötschger, Ulrike, Hutter, Caroline, Sieni, Elena, Minkov, Milen, Abla, Oussama, van Wezel, Tom, van den Bos, Cor, and van Halteren, Astrid G.S.

Abstract

Langerhans cell histiocytosis (LCH) is a rare neoplastic disorder caused by somatic genetic alterations in hematopoietic precursor cells differentiating into CD1a+/CD207+ histiocytes. LCH clinical manifestation is highly heterogeneous. BRAF and MAP2K1 mutations account for ~80% of genetic driver alterations in neoplastic LCH cells. However, their clinical associations remain incompletely understood. Here, we present an international clinicogenomic study of childhood LCH, investigating 377 patients genotyped for at least BRAFV600E. MAPK pathway gene alterations were detected in 300 (79.6%) patients, including 191 (50.7%) with BRAFV600E, 54 with MAP2K1 mutations, 39 with BRAF exon 12 mutations, 13 with rare BRAF alterations, and 3 with ARAF or KRAS mutations. Our results confirm that BRAFV600E associates with lower age at diagnosis and higher prevalence of multisystem LCH, high-risk disease, and skin involvement. Furthermore, BRAFV600E appeared to correlate with a higher prevalence of central nervous system (CNS)–risk bone lesions. In contrast, MAP2K1 mutations associated with a higher prevalence of single-system (SS)-bone LCH, and BRAF exon 12 deletions seemed to correlate with more lung involvement. Although BRAFV600E correlated with reduced event-free survival in the overall cohort, neither BRAF nor MAP2K1 mutations associated with event-free survival when patients were stratified by disease extent. Thus, the correlation of BRAFV600E with inferior clinical outcome is (primarily) driven by its association with disease extents known for high rates of progression or relapse, including multisystem LCH. These findings advance our understanding of factors underlying the remarkable clinical heterogeneity of LCH but also question the independent prognostic value of lesional BRAFV600E status.

Published
2023

25. Diagnostic Utility of Menin Immunohistochemistry in Patients With Multiple Endocrine Neoplasia Type 1 Syndrome

Author

Cancer, Pathologie Groep Brosens, Pathologie Pathologen staf, Unit Opleiding Aios, Genetica Sectie Genoomdiagnostiek, MS Endocriene Oncologie, Heelkunde Opleiding, MS CGO, Genetica Klinische Genetica, Verschuur, Anna Vera D, Kok, Aranxa S M, Morsink, Folkert H M, de Leng, Wendy W J, van den Broek, Medard F M, Koudijs, Marco J, Offerhaus, Johan A, Valk, Gerlof D, Vriens, Menno R, van Nesselrooij, Bernadette P M, Hackeng, Wenzel M, Brosens, Lodewijk A A, Cancer, Pathologie Groep Brosens, Pathologie Pathologen staf, Unit Opleiding Aios, Genetica Sectie Genoomdiagnostiek, MS Endocriene Oncologie, Heelkunde Opleiding, MS CGO, Genetica Klinische Genetica, Verschuur, Anna Vera D, Kok, Aranxa S M, Morsink, Folkert H M, de Leng, Wendy W J, van den Broek, Medard F M, Koudijs, Marco J, Offerhaus, Johan A, Valk, Gerlof D, Vriens, Menno R, van Nesselrooij, Bernadette P M, Hackeng, Wenzel M, and Brosens, Lodewijk A A

Published
2023

26. Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm

Author

Genetica, Genetica Oper.Mang. Clinical Genetics, Cancer, Child Health, Speerpunt, Zorg en O&O, Genetica Klinische Genetica, Pathologie Moleculair, Genetica Sectie Genoomdiagnostiek, PMC Medisch specialisten, Onderzoek Beeld, Bakhuizen, Jette J., Hopman, Saskia M.J., Bosscha, Machteld I., Dommering, Charlotte J., van den Heuvel-Eibrink, Marry M., Hol, Janna A., Kester, Lennart A., Koudijs, Marco J., Langenberg, Karin P.S., Loeffen, Jan L.C., van der Lugt, Jasper, Moll, Annette C., van Noesel, Max M., Smetsers, Stephanie E., de Vos-Kerkhof, Evelien, Merks, Johannes H.M., Kuiper, Roland P., Jongmans, Marjolijn C.J., Genetica, Genetica Oper.Mang. Clinical Genetics, Cancer, Child Health, Speerpunt, Zorg en O&O, Genetica Klinische Genetica, Pathologie Moleculair, Genetica Sectie Genoomdiagnostiek, PMC Medisch specialisten, Onderzoek Beeld, Bakhuizen, Jette J., Hopman, Saskia M.J., Bosscha, Machteld I., Dommering, Charlotte J., van den Heuvel-Eibrink, Marry M., Hol, Janna A., Kester, Lennart A., Koudijs, Marco J., Langenberg, Karin P.S., Loeffen, Jan L.C., van der Lugt, Jasper, Moll, Annette C., van Noesel, Max M., Smetsers, Stephanie E., de Vos-Kerkhof, Evelien, Merks, Johannes H.M., Kuiper, Roland P., and Jongmans, Marjolijn C.J.

Published
2023

28. Supplementary Table S3 from A Systematic Analysis of Oncogenic Gene Fusions in Primary Colon Cancer

Author

Kloosterman, Wigard P., primary, Coebergh van den Braak, Robert R.J., primary, Pieterse, Mark, primary, van Roosmalen, Markus J., primary, Sieuwerts, Anieta M., primary, Stangl, Christina, primary, Brunekreef, Ronne, primary, Lalmahomed, Zarina S., primary, Ooft, Salo, primary, van Galen, Anne, primary, Smid, Marcel, primary, Lefebvre, Armel, primary, Zwartkruis, Fried, primary, Martens, John W.M., primary, Foekens, John A., primary, Biermann, Katharina, primary, Koudijs, Marco J., primary, Ijzermans, Jan N.M., primary, and Voest, Emile E., primary

Published
2023
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29. Supplementary Data file from A Systematic Analysis of Oncogenic Gene Fusions in Primary Colon Cancer

Author

Kloosterman, Wigard P., primary, Coebergh van den Braak, Robert R.J., primary, Pieterse, Mark, primary, van Roosmalen, Markus J., primary, Sieuwerts, Anieta M., primary, Stangl, Christina, primary, Brunekreef, Ronne, primary, Lalmahomed, Zarina S., primary, Ooft, Salo, primary, van Galen, Anne, primary, Smid, Marcel, primary, Lefebvre, Armel, primary, Zwartkruis, Fried, primary, Martens, John W.M., primary, Foekens, John A., primary, Biermann, Katharina, primary, Koudijs, Marco J., primary, Ijzermans, Jan N.M., primary, and Voest, Emile E., primary

Published
2023
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30. Supplementary Table 4 from Primary Colorectal Cancers and Their Subsequent Hepatic Metastases Are Genetically Different: Implications for Selection of Patients for Targeted Treatment

Author

Vermaat, Joost S., primary, Nijman, Isaac J., primary, Koudijs, Marco J., primary, Gerritse, Frank L., primary, Scherer, Stefan J., primary, Mokry, Michal, primary, Roessingh, Wijnand M., primary, Lansu, Nico, primary, de Bruijn, Ewart, primary, van Hillegersberg, Richard, primary, van Diest, Paul J., primary, Cuppen, Edwin, primary, and Voest, Emile E., primary

Published
2023
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31. Supplementary Tables 1, 3, 5 from Primary Colorectal Cancers and Their Subsequent Hepatic Metastases Are Genetically Different: Implications for Selection of Patients for Targeted Treatment

Author

Vermaat, Joost S., primary, Nijman, Isaac J., primary, Koudijs, Marco J., primary, Gerritse, Frank L., primary, Scherer, Stefan J., primary, Mokry, Michal, primary, Roessingh, Wijnand M., primary, Lansu, Nico, primary, de Bruijn, Ewart, primary, van Hillegersberg, Richard, primary, van Diest, Paul J., primary, Cuppen, Edwin, primary, and Voest, Emile E., primary

Published
2023
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32. Data from A Systematic Analysis of Oncogenic Gene Fusions in Primary Colon Cancer

Author

Kloosterman, Wigard P., primary, Coebergh van den Braak, Robert R.J., primary, Pieterse, Mark, primary, van Roosmalen, Markus J., primary, Sieuwerts, Anieta M., primary, Stangl, Christina, primary, Brunekreef, Ronne, primary, Lalmahomed, Zarina S., primary, Ooft, Salo, primary, van Galen, Anne, primary, Smid, Marcel, primary, Lefebvre, Armel, primary, Zwartkruis, Fried, primary, Martens, John W.M., primary, Foekens, John A., primary, Biermann, Katharina, primary, Koudijs, Marco J., primary, Ijzermans, Jan N.M., primary, and Voest, Emile E., primary

Published
2023
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33. Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm

Author

Bakhuizen, Jette J., primary, Hopman, Saskia M. J., additional, Bosscha, Machteld I., additional, Dommering, Charlotte J., additional, van den Heuvel-Eibrink, Marry M., additional, Hol, Janna A., additional, Kester, Lennart A., additional, Koudijs, Marco J., additional, Langenberg, Karin P. S., additional, Loeffen, Jan L. C., additional, van der Lugt, Jasper, additional, Moll, Annette C., additional, van Noesel, Max M., additional, Smetsers, Stephanie E., additional, de Vos-Kerkhof, Evelien, additional, Merks, Johannes H. M., additional, Kuiper, Roland P., additional, and Jongmans, Marjolijn C. J., additional

Published
2023
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35. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

Author

de Lange, Iris M., Koudijs, Marco J., van ʼt Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., van Gemert, Lisette J. J. M., Mulder, Flip, Carbo, Ellen C., van Kempen, Marjan J. A., Verbeek, Nienke E., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M. C., Knoers, Nine V. A. M., Brilstra, Eva H., and Koeleman, Bobby P. C.

Published
2018
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36. 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 variant

Author

Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul, Clinical Genetics, Medical Oncology, Surgery, Pathology, Gynecological Oncology, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Lakeman IMM] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [van den Broek AJ, Vos JAM] Division of Molecular Pathology, The Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. [Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Adlard J] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [Balmaña J] Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Human Genetics, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Quality of Care, Chapel Allerton Hospital, University of Leeds, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Reykjavík University, Division of Oncology, Department of Gynaecology and Obstetrics, University Hospital Schleswig–Holstein, The University of Texas M.D. Anderson Cancer Center [Houston], Unitat d'Alt Risc i Prevenció del Càncer, Vall d'Hebron University Hospital [Barcelona], University of Cambridge [UK] (CAM), Group of Human Genetics, Human Cancer Genetics Programme, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Section of Genetic Oncology, University of Pisa - Università di Pisa, Columbia University [New York], Ghent University Hospital, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Laboratory Medicine and Pathology, Mayo Clinic, Division of Population Science, Fox Chase Cancer Center, Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), CHU Grenoble, CHI Poissy-Saint-Germain, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and Klinische Genetica

Subjects
0301 basic medicine, Percentile, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [DISEASES], Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], SUSCEPTIBILITY ALLELES, Diàtesi, FAMILIES, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], MESH: BRCA2 Protein, Breast cancer, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Other subheadings::/diagnosis [Other subheadings], Medicine and Health Sciences, Medicine, Mama - Càncer - Diagnòstic, Family history, skin and connective tissue diseases, Genetics (clinical), MESH: Heterozygote, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, BRCA1 Protein, Hazard ratio, MESH: Genetic Predisposition to Disease, 1184 Genetics, developmental biology, physiology, article, OVARIAN, BRCA2 Protein/genetics, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 3. Good health, 030220 oncology & carcinogenesis, Female, Malalties congènites, Adult, Heterozygote, medicine.medical_specialty, MESH: Mutation, Risk factors in diseases, Otros calificadores::/diagnóstico [Otros calificadores], Breast Neoplasms, Context (language use), MUTATION CARRIERS, Càncer de mama, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad [ENFERMEDADES], 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, Humans, Genetic Predisposition to Disease, MESH: BRCA1 Protein, Retrospective Studies, BRCA2 Protein, MESH: Humans, business.industry, Proportional hazards model, CONSORTIUM, Breast Neoplasms/diagnosis, MESH: Adult, MESH: Retrospective Studies, Retrospective cohort study, medicine.disease, Confidence interval, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, BRCA1 Protein/genetics, 3111 Biomedicine, business, MESH: Female, MESH: Breast Neoplasms
Abstract

Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic variant Purpose To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC

Published
2021
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37. Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study

Author

Heemskerk-Gerritsen, Bernadette A. M., primary, Hollestelle, Antoinette, additional, van Asperen, Christi J., additional, van den Beek, Irma, additional, van Driel, Willemien J., additional, van Engelen, Klaartje, additional, Gómez Garcia, Encarna B., additional, de Hullu, Joanne A., additional, Koudijs, Marco J., additional, Mourits, Marian J. E., additional, Hooning, Maartje J., additional, and Boere, Ingrid A., additional

Published
2022
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38. Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program ‘iTHER’

Author

Dep Scheikunde, Afd Pharmaceutics, Pharmaceutics, Langenberg, Karin P.S., Meister, Michael T., Bakhuizen, Jette J., Boer, Judith M., van Eijkelenburg, Natasha K.A., Hulleman, Esther, Ilan, Uri, Looze, Eleonora J., Dierselhuis, Miranda P., van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G., Ober, Kimberley, van Hooff, Sander R., Scheijde-Vermeulen, Marijn A., Hiemcke-Jiwa, Laura S., Flucke, Uta E., Kranendonk, Mariette E.G., Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T.P., Volckmann, Richard, Hehir-Kwa, Jayne Y., Kester, Lennart A., Koudijs, Marco M.J., Waanders, Esme, Holstege, Frank C.P., Vormoor, H. Josef, Hoving, Eelco W., van Noesel, Max M., Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P., Van Tilburg, Cornelis M., Jones, Barbara C., Jones, David T.W., Witt, Olaf, Pfister, Stefan M., Jongmans, Marjolijn C.J., Kuiper, Roland P., de Krijger, Ronald R., Wijnen, Marc H.W., den Boer, Monique L., Zwaan, C. Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B.J., Goemans, Bianca F., Molenaar, Jan J., Dep Scheikunde, Afd Pharmaceutics, Pharmaceutics, Langenberg, Karin P.S., Meister, Michael T., Bakhuizen, Jette J., Boer, Judith M., van Eijkelenburg, Natasha K.A., Hulleman, Esther, Ilan, Uri, Looze, Eleonora J., Dierselhuis, Miranda P., van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G., Ober, Kimberley, van Hooff, Sander R., Scheijde-Vermeulen, Marijn A., Hiemcke-Jiwa, Laura S., Flucke, Uta E., Kranendonk, Mariette E.G., Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T.P., Volckmann, Richard, Hehir-Kwa, Jayne Y., Kester, Lennart A., Koudijs, Marco M.J., Waanders, Esme, Holstege, Frank C.P., Vormoor, H. Josef, Hoving, Eelco W., van Noesel, Max M., Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P., Van Tilburg, Cornelis M., Jones, Barbara C., Jones, David T.W., Witt, Olaf, Pfister, Stefan M., Jongmans, Marjolijn C.J., Kuiper, Roland P., de Krijger, Ronald R., Wijnen, Marc H.W., den Boer, Monique L., Zwaan, C. Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B.J., Goemans, Bianca F., and Molenaar, Jan J.

Published
2022

39. Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer:A matched cohort study

Author

Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, van Asperen, Christi J., van den Beek, Irma, van Driel, Willemien J., van Engelen, Klaartje, Garcia, Encarna B.Gómez, de Hullu, Joanne A., Koudijs, Marco J., Mourits, Marian J.E., Hooning, Maartje J., Boere, Ingrid A., Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, van Asperen, Christi J., van den Beek, Irma, van Driel, Willemien J., van Engelen, Klaartje, Garcia, Encarna B.Gómez, de Hullu, Joanne A., Koudijs, Marco J., Mourits, Marian J.E., Hooning, Maartje J., and Boere, Ingrid A.

Abstract

Introduction Germline BRCA1/2-associated epithelial ovarian cancer has been associated with better progression-free survival and overall survival than sporadic epithelial ovarian cancer, but conclusive data are lacking. Methods We matched 389 BRCA1-associated and 123 BRCA2-associated epithelial ovarian cancer patients 1:1 to sporadic epithelial ovarian cancer patients on year of birth, year of diagnosis, and FIGO stage (< = IIA/> = IIB). Germline DNA test was performed before or after epithelial ovarian cancer diagnosis. All patients received chemotherapy. We used Cox proportional hazards models to estimate the associations between mutation status (BRCA1 or BRCA2 versus sporadic) and progression-free survival and overall survival. To investigate whether DNA testing after epithelial ovarian cancer diagnosis resulted in survival bias, we performed additional analyses limited to BRCA1/2-associated epithelial ovarian cancer patients with a DNA test result before cancer diagnosis (n = 73 BRCA1; n = 9 BRCA2) and their matched sporadic controls. Results The median follow-up was 4.4 years (range 0.1-30.1). During the first three years after epithelial ovarian cancer diagnosis, progression-free survival was better for BRCA1 (HR 0.88, 95% CI 0.74-1.04) and BRCA2 (HR 0.58, 95% CI 0.41-0.81) patients than for sporadic patients. Overall survival was better during the first six years after epithelial ovarian cancer for BRCA1 (HR 0.7, 95% CI 0.58-0.84) and BRCA2 (HR 0.41, 95% CI 0.29-0.59) patients. After surviving these years, survival benefits disappeared or were in favor of the sporadic patients. Conclusion For epithelial ovarian cancer patients who received chemotherapy, we confirmed survival benefit for BRCA1 and BRCA2 germline pathogenic variant carriers. This may indicate higher sensitivity to chemotherapy, both in first line treatment and in the recurrent setting. The observ

Published
2022

40. Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study

Author

Genetica Sectie Genoomdiagnostiek, Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, van Asperen, Christi J., van den Beek, Irma, van Driel, Willemien J., van Engelen, Klaartje, Garcia, Encarna B.Gómez, de Hullu, Joanne A., Koudijs, Marco J., Mourits, Marian J.E., Hooning, Maartje J., Boere, Ingrid A., Genetica Sectie Genoomdiagnostiek, Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, van Asperen, Christi J., van den Beek, Irma, van Driel, Willemien J., van Engelen, Klaartje, Garcia, Encarna B.Gómez, de Hullu, Joanne A., Koudijs, Marco J., Mourits, Marian J.E., Hooning, Maartje J., and Boere, Ingrid A.

Published
2022

41. Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'

Author

Genetica Oper.Mang. Clinical Genetics, Cancer, PMC Medisch specialisten, Arts-assistenten Kinderen, Groep Holstege, Pathologie Pathologen staf, Pathologie Groep Van Diest, Brain, Hematologie ICAT, Infection & Immunity, CDL Cluster Onderzoek en Onderwijs, Pathologie Moleculair, Genetica Sectie Genoomdiagnostiek, Onderzoek Beeld, Child Health, Neurochirurgen, Zorg en O&O, Genetica Klinische Genetica, Genetica, Zorgeenheid Kinderchirurgie Medisch, Speerpunt, CMM, Langenberg, Karin P S, Meister, Michael T, Bakhuizen, Jette J, Boer, Judith M, van Eijkelenburg, Natasha K A, Hulleman, Esther, Ilan, Uri, Looze, Eleonora J, Dierselhuis, Miranda P, van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G, Ober, Kimberley, van Hooff, Sander R, Scheijde-Vermeulen, Marijn A, Hiemcke-Jiwa, Laura S, Flucke, Uta E, Kranendonk, Mariette E G, Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T P, Volckmann, Richard, Hehir-Kwa, Jayne Y, Kester, Lennart A, Koudijs, Marco M J, Waanders, Esme, Holstege, Frank C P, Vormoor, H Josef, Hoving, Eelco W, van Noesel, Max M, Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P, Van Tilburg, Cornelis M, Jones, Barbara C, Jones, David T W, Witt, Olaf, Pfister, Stefan M, Jongmans, Marjolijn C J, Kuiper, Roland P, de Krijger, Ronald R, Wijnen, Marc H W, den Boer, Monique L, Zwaan, C Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B J, Goemans, Bianca F, Molenaar, Jan J, Genetica Oper.Mang. Clinical Genetics, Cancer, PMC Medisch specialisten, Arts-assistenten Kinderen, Groep Holstege, Pathologie Pathologen staf, Pathologie Groep Van Diest, Brain, Hematologie ICAT, Infection & Immunity, CDL Cluster Onderzoek en Onderwijs, Pathologie Moleculair, Genetica Sectie Genoomdiagnostiek, Onderzoek Beeld, Child Health, Neurochirurgen, Zorg en O&O, Genetica Klinische Genetica, Genetica, Zorgeenheid Kinderchirurgie Medisch, Speerpunt, CMM, Langenberg, Karin P S, Meister, Michael T, Bakhuizen, Jette J, Boer, Judith M, van Eijkelenburg, Natasha K A, Hulleman, Esther, Ilan, Uri, Looze, Eleonora J, Dierselhuis, Miranda P, van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G, Ober, Kimberley, van Hooff, Sander R, Scheijde-Vermeulen, Marijn A, Hiemcke-Jiwa, Laura S, Flucke, Uta E, Kranendonk, Mariette E G, Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T P, Volckmann, Richard, Hehir-Kwa, Jayne Y, Kester, Lennart A, Koudijs, Marco M J, Waanders, Esme, Holstege, Frank C P, Vormoor, H Josef, Hoving, Eelco W, van Noesel, Max M, Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P, Van Tilburg, Cornelis M, Jones, Barbara C, Jones, David T W, Witt, Olaf, Pfister, Stefan M, Jongmans, Marjolijn C J, Kuiper, Roland P, de Krijger, Ronald R, Wijnen, Marc H W, den Boer, Monique L, Zwaan, C Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B J, Goemans, Bianca F, and Molenaar, Jan J

Published
2022

42. Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing

Author

Genetica, Genetica Sectie Oncogenetica, Cancer, MS Gynaecologische Oncologie, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Bokkers, Kyra, Bleiker, Eveline M.A., Hoogendam, Jacob P., Velthuizen, Mary E., Schreuder, Henk W.R., Gerestein, Cornelis G., Lange, Joost G., Louwers, Jacqueline A., Koudijs, Marco J., Ausems, Margreet G.E.M., Zweemer, Ronald P., Genetica, Genetica Sectie Oncogenetica, Cancer, MS Gynaecologische Oncologie, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Bokkers, Kyra, Bleiker, Eveline M.A., Hoogendam, Jacob P., Velthuizen, Mary E., Schreuder, Henk W.R., Gerestein, Cornelis G., Lange, Joost G., Louwers, Jacqueline A., Koudijs, Marco J., Ausems, Margreet G.E.M., and Zweemer, Ronald P.

Published
2022

43. Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

Author

Genetica Klinische Genetica, Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Pathologie Pathologen staf, Speerpunt, Zorg en O&O, Cancer, Hol, Janna A., Kuiper, Roland P., Van Dijk, Freerk, Waanders, Esmé, Van Peer, Sophie E., Koudijs, Marco J., Bladergroen, Reno, Van Reijmersdal, Simon V., Morgado, Lionel M., Bliek, Jet, Lombardi, Maria Paola, Hopman, Saskia, Drost, Jarno, De Krijger, Ronald R., Van Den Heuvel-Eibrink, Marry M., Jongmans, Marjolijn C.J., Genetica Klinische Genetica, Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Pathologie Pathologen staf, Speerpunt, Zorg en O&O, Cancer, Hol, Janna A., Kuiper, Roland P., Van Dijk, Freerk, Waanders, Esmé, Van Peer, Sophie E., Koudijs, Marco J., Bladergroen, Reno, Van Reijmersdal, Simon V., Morgado, Lionel M., Bliek, Jet, Lombardi, Maria Paola, Hopman, Saskia, Drost, Jarno, De Krijger, Ronald R., Van Den Heuvel-Eibrink, Marry M., and Jongmans, Marjolijn C.J.

Published
2022

44. Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing

Author

Genetica Sectie Genoomdiagnostiek, Pathologie Moleculair, Cancer, Pathologie Groep Van Diest, PMC Medisch specialisten, Pathologie Pathologen staf, CMM, Hehir-Kwa, Jayne Y, Koudijs, Marco J, Verwiel, Eugene T P, Kester, Lennart A, van Tuil, Marc, Strengman, Eric, Buijs, Arjan, Kranendonk, Mariëtte E G, Hiemcke-Jiwa, Laura S, de Haas, Valerie, van de Geer, Ellen, de Leng, Wendy, van der Lugt, Jasper, Lijnzaad, Philip, Holstege, Frank C P, Kemmeren, Patrick, Tops, Bastiaan B J, Genetica Sectie Genoomdiagnostiek, Pathologie Moleculair, Cancer, Pathologie Groep Van Diest, PMC Medisch specialisten, Pathologie Pathologen staf, CMM, Hehir-Kwa, Jayne Y, Koudijs, Marco J, Verwiel, Eugene T P, Kester, Lennart A, van Tuil, Marc, Strengman, Eric, Buijs, Arjan, Kranendonk, Mariëtte E G, Hiemcke-Jiwa, Laura S, de Haas, Valerie, van de Geer, Ellen, de Leng, Wendy, van der Lugt, Jasper, Lijnzaad, Philip, Holstege, Frank C P, Kemmeren, Patrick, and Tops, Bastiaan B J

Published
2022

45. Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer

Author

Genetica Sectie Oncogenetica, Cancer, MS Gynaecologische Oncologie, Genetica Sectie Genoomdiagnostiek, Genetica, Genetica Klinische Genetica, Bokkers, Kyra, Zweemer, Ronald P, Koudijs, Marco J, Stehouwer, Sanne, Velthuizen, Mary E, Bleiker, Eveline M A, Ausems, Margreet G E M, Genetica Sectie Oncogenetica, Cancer, MS Gynaecologische Oncologie, Genetica Sectie Genoomdiagnostiek, Genetica, Genetica Klinische Genetica, Bokkers, Kyra, Zweemer, Ronald P, Koudijs, Marco J, Stehouwer, Sanne, Velthuizen, Mary E, Bleiker, Eveline M A, and Ausems, Margreet G E M

Published
2022

47. Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

Author

Hol, Janna A., primary, Kuiper, Roland P., additional, van Dijk, Freerk, additional, Waanders, Esmé, additional, van Peer, Sophie E., additional, Koudijs, Marco J., additional, Bladergroen, Reno, additional, van Reijmersdal, Simon V., additional, Morgado, Lionel M., additional, Bliek, Jet, additional, Lombardi, Maria Paola, additional, Hopman, Saskia, additional, Drost, Jarno, additional, de Krijger, Ronald R., additional, van den Heuvel-Eibrink, Marry M., additional, and Jongmans, Marjolijn C.J., additional

Published
2022
Full Text
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48. Additional file 1 of Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing

Author

Bokkers, Kyra, Bleiker, Eveline M. A., Hoogendam, Jacob P., Velthuizen, Mary E., Schreuder, Henk W. R., Gerestein, Cornelis G., Lange, Joost G., Louwers, Jacqueline A., Koudijs, Marco J., Ausems, Margreet G. E. M., and Zweemer, Ronald P.

Abstract

Additional file 1: Supplementary Table 1. Knowledge of patients in the intervention and control group. For all statements patients could choose between ‘true’, ‘false’, and ‘don’t know’. *p ≤ 0.05.

Published
2022
Full Text
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50. RNA-Sequencing Improves Diagnostics and Treatment of Pediatric Hematological Malignancies

Author

Koudijs, Marco J., primary, Kester, Lennart A., additional, Hehir-Kwa, Jayne Y., additional, Verwiel, Eugene T.P., additional, Strengman, Erik, additional, van Tuil, Marc, additional, van der Leest, Douwe, additional, Sonneveld, Edwin, additional, Kemmeren, Patrick, additional, Haas, Valerie De, additional, Vormoor, Josef, additional, and Tops, Bas B.J., additional

Published
2021
Full Text
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