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2. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Stommel-Jenner, D.J., de Groot, R., Vieveen, E., Collée, J.M., Geurts-Giele, W., Heemskerk-Gerritsen, B.A.M., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., Wevers, M.R., Mensenkamp, A.R., de Hullu, J.A., Ausems, M.G.E.M., Koudijs, M.J., Koole, W., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., Berger, L.P.V., van der Hout, A.H., de Bock, G.H., Yigit, R., Siesling, S., Verloop, J., Voorham, Q.J.M., Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, Arjen R., Adank, Muriel A., and Hooning, Maartje J.

Published
2024
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3. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Author

van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., and Galjaard, Robert-Jan H.

Published
2022
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4. First-in-Human Phase I Clinical Trial of an SFV-Based RNA Replicon Cancer Vaccine against HPV-Induced Cancers

Author

Komdeur, Fenne L., Singh, Amrita, van de Wall, Stephanie, Meulenberg, Janneke J.M., Boerma, Annemarie, Hoogeboom, Baukje Nynke, Paijens, Sterre T., Oyarce, Cesar, de Bruyn, Marco, Schuuring, Ed, Regts, Joke, Marra, Ruben, Werner, Naomi, Sluis, Jessica, van der Zee, Ate G.J., Wilschut, Jan C., Allersma, Derk P., van Zanten, Coba J., Kosterink, Jos G.W., Jorritsma-Smit, Annelies, Yigit, Refika, Nijman, Hans W., and Daemen, Toos

Published
2021
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5. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Demirdas, Serwet, primary, van den Bersselaar, Lisa M., additional, Lechner, Rosan, additional, Bos, Jessica, additional, Alsters, Suzanne I.M., additional, Baars, Marieke J.H., additional, Baas, Annette F., additional, Baysal, Özlem, additional, van der Crabben, Saskia N., additional, Dulfer, Eelco, additional, Giesbertz, Noor A.A., additional, Helderman-van den Enden, Apollonia T.J.M., additional, Hilhorst-Hofstee, Yvonne, additional, Kempers, Marlies J.E., additional, Komdeur, Fenne L., additional, Loeys, Bart, additional, Majoor-Krakauer, Daniëlle, additional, Ockeloen, Charlotte W., additional, Overwater, Eline, additional, van Tintelen, Peter J., additional, Voorendt, Marsha, additional, de Waard, Vivian, additional, Maugeri, Alessandra, additional, Brüggenwirth, Hennie T., additional, van de Laar, Ingrid M.B.H., additional, and Houweling, Arjan C., additional

Published
2024
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6. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Genetica Klinische Genetica, Circulatory Health, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, Houweling, Arjan C, Genetica Klinische Genetica, Circulatory Health, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, and Houweling, Arjan C

Published
2024

7. Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives

Author

Genetica, Genetica Sectie Oncogenetica, Cancer, Genetica Klinische Genetica, Vlaming, Michiel, Ausems, Margreet G.E.M., Schijven, Gina, van Oort, Inge M., Kets, C. Marleen, Komdeur, Fenne L., van der Kolk, Lizet E., Oldenburg, Rogier A., Sijmons, Rolf H., Kiemeney, Lambertus A.L.M., Bleiker, Eveline M.A., Genetica, Genetica Sectie Oncogenetica, Cancer, Genetica Klinische Genetica, Vlaming, Michiel, Ausems, Margreet G.E.M., Schijven, Gina, van Oort, Inge M., Kets, C. Marleen, Komdeur, Fenne L., van der Kolk, Lizet E., Oldenburg, Rogier A., Sijmons, Rolf H., Kiemeney, Lambertus A.L.M., and Bleiker, Eveline M.A.

Published
2024

8. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Author

Genetica Sectie Research, Cancer, Child Health, Efthymiou, Stephanie, Scala, Marcello, Nagaraj, Vini, Ochenkowska, Katarzyna, Komdeur, Fenne L., Liang, Robin A., Abdel-Hamid, Mohamed S., Sultan, Tipu, Barøy, Tuva, Van Ghelue, Marijke, Vona, Barbara, Maroofian, Reza, Zafar, Faisal, Alkuraya, Fowzan S., Zaki, Maha S., Severino, Mariasavina, Duru, Kingsley C., Tryon, Robert C., Brauteset, Lin Vigdis, Ansari, Morad, Hamilton, Mark, Van Haelst, Mieke M., Van Haaften, Gijs, Zara, Federico, Houlden, Henry, Samarut, Éric, Nichols, Colin G., Smeland, Marie F., McClenaghan, Conor, Genetica Sectie Research, Cancer, Child Health, Efthymiou, Stephanie, Scala, Marcello, Nagaraj, Vini, Ochenkowska, Katarzyna, Komdeur, Fenne L., Liang, Robin A., Abdel-Hamid, Mohamed S., Sultan, Tipu, Barøy, Tuva, Van Ghelue, Marijke, Vona, Barbara, Maroofian, Reza, Zafar, Faisal, Alkuraya, Fowzan S., Zaki, Maha S., Severino, Mariasavina, Duru, Kingsley C., Tryon, Robert C., Brauteset, Lin Vigdis, Ansari, Morad, Hamilton, Mark, Van Haelst, Mieke M., Van Haaften, Gijs, Zara, Federico, Houlden, Henry, Samarut, Éric, Nichols, Colin G., Smeland, Marie F., and McClenaghan, Conor

Published
2024

9. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

Genetica Klinische Genetica, Cancer, Afdeling Dietetiek, Hubrecht Institute with UMC, Genetica Sectie Genoomdiagnostiek, MS CGO, Epi Kanker Team A, Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, M. A., Hooning, M. J., The Hereditary Breast and Ovarian Cancer Research Group Netherlands, Genetica Klinische Genetica, Cancer, Afdeling Dietetiek, Hubrecht Institute with UMC, Genetica Sectie Genoomdiagnostiek, MS CGO, Epi Kanker Team A, Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, M. A., Hooning, M. J., and The Hereditary Breast and Ovarian Cancer Research Group Netherlands

Published
2024

10. Vascular Ehlers-Danlos Syndrome:A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Demirdas, Serwet, van den Bersselaar, Lisa M., Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I.M., Baars, Marieke J.H., Baas, Annette F., Baysal, Özlem, van der Crabben, Saskia N., Dulfer, Eelco, Giesbertz, Noor A.A., Helderman-Van den Enden, Apollonia T.J.M., Hilhorst-Hofstee, Yvonne, Kempers, Marlies J.E., Komdeur, Fenne L., Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W., Overwater, Eline, van Tintelen, Peter J., Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H., Houweling, Arjan C., Demirdas, Serwet, van den Bersselaar, Lisa M., Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I.M., Baars, Marieke J.H., Baas, Annette F., Baysal, Özlem, van der Crabben, Saskia N., Dulfer, Eelco, Giesbertz, Noor A.A., Helderman-Van den Enden, Apollonia T.J.M., Hilhorst-Hofstee, Yvonne, Kempers, Marlies J.E., Komdeur, Fenne L., Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W., Overwater, Eline, van Tintelen, Peter J., Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H., and Houweling, Arjan C.

Abstract

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. RESULTS: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P<0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03). CONCLUSIONS: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.

Published
2024

11. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, M. G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, Muriel A., Hooning, Maartje J., Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, M. G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, Muriel A., and Hooning, Maartje J.

Abstract

Purpose: Female CHEK2 c.1100delC heterozygotes are eligible for additional breast surveillance because of an increased breast cancer risk. Increased risks for other cancers have been reported. We studied whether CHEK2 c.1100delC is associated with an increased risk for other cancers within these families. Methods:Including 10,780 individuals from 609 families, we calculated standardized incidence rates (SIRs) and absolute excess risk (AER, per 10,000 person-years) by comparing first-reported cancer derived from the pedigrees with general Dutch population rates from 1970 onward. Attained-age analyses were performed for sites in which significant increased risks were found. Considering the study design, we primarily focused on cancer risk in women. Results: We found significant increased risks of colorectal cancer (CRC; SIR = 1.43, 95% CI = 1.14-1.76; AER = 1.43) and hematological cancers (SIR = 1.32; 95% CI = 1.02-1.67; AER = 0.87). CRC was significantly more frequent from age 45 onward. Conclusion: A significantly increased risk of CRC, and hematological cancers in women was found, starting at a younger age than expected. Currently, colorectal surveillance starts at age 45 in high-risk individuals. Our results suggest that some CHEK2 c.1100delC families might benefit from this surveillance as well; however, further research is needed to determine who may profit from this additional colorectal surveillance.

Published
2024

12. Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes:disclosure of genetic test results to relatives

Author

Vlaming, Michiel, Ausems, Margreet G.E.M., Schijven, Gina, van Oort, Inge M., Kets, C. Marleen, Komdeur, Fenne L., van der Kolk, Lizet E., Oldenburg, Rogier A., Sijmons, Rolf H., Kiemeney, Lambertus A.L.M., Bleiker, Eveline M.A., Vlaming, Michiel, Ausems, Margreet G.E.M., Schijven, Gina, van Oort, Inge M., Kets, C. Marleen, Komdeur, Fenne L., van der Kolk, Lizet E., Oldenburg, Rogier A., Sijmons, Rolf H., Kiemeney, Lambertus A.L.M., and Bleiker, Eveline M.A.

Abstract

Some patients with metastatic prostate cancer carry a pathogenic germline variant (PV) in a gene, that is mainly associated with an increased risk of breast cancer in women. If they test positive for such a PV, prostate cancer patients are encouraged to disclose the genetic test result to relatives who are at risk in case the carrier status changes the relatives’ medical care. Our study aimed to investigate how men who learned they carry a PV in BRCA1, BRCA2, PALB2, CHEK2 or ATM disclosed their carrier status to at-risk relatives and to assess the possible psychological burden for the carrier and their perception of the burden for relatives. In total, 23 men with metastatic prostate cancer carrying a PV completed the IRI questionnaire about family communication; 14 also participated in a semi-structured interview. Patients felt highly confident in discussing the genetic test result with relatives. The diagnosis of prostate cancer was experienced as a burden, whereas being informed about genetic testing results did in most cases not add to this burden. Two patients encountered negative experiences with family communication, as they considered the genetic test result to be more urgent than their relatives. This mixed-methods study shows that metastatic prostate cancer patients with a PV in genes mainly associated with increased risk of breast cancer feel well-equipped to communicate about this predisposition in their families. Carriers felt motivated to disclose their genetic test result to relatives. Most of them indicated that the disclosure was not experienced as a psychological burden.

Published
2024

13. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Author

Efthymiou, Stephanie, primary, Scala, Marcello, additional, Nagaraj, Vini, additional, Ochenkowska, Katarzyna, additional, Komdeur, Fenne L, additional, Liang, Robin A, additional, Abdel-Hamid, Mohamed S, additional, Sultan, Tipu, additional, Barøy, Tuva, additional, Van Ghelue, Marijke, additional, Vona, Barbara, additional, Maroofian, Reza, additional, Zafar, Faisal, additional, Alkuraya, Fowzan S, additional, Zaki, Maha S, additional, Severino, Mariasavina, additional, Duru, Kingsley C, additional, Tryon, Robert C, additional, Brauteset, Lin Vigdis, additional, Ansari, Morad, additional, Hamilton, Mark, additional, van Haelst, Mieke M, additional, van Haaften, Gijs, additional, Zara, Federico, additional, Houlden, Henry, additional, Samarut, Éric, additional, Nichols, Colin G, additional, Smeland, Marie F, additional, and McClenaghan, Conor, additional

Published
2024
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15. Data from A Transcriptionally Distinct CXCL13+CD103+CD8+ T-cell Population Is Associated with B-cell Recruitment and Neoantigen Load in Human Cancer

Author

Workel, Hagma H., primary, Lubbers, Joyce M., primary, Arnold, Roland, primary, Prins, Thalina M., primary, van der Vlies, Pieter, primary, de Lange, Kim, primary, Bosse, Tjalling, primary, van Gool, Inge C., primary, Eggink, Florine A., primary, Wouters, Maartje C.A., primary, Komdeur, Fenne L., primary, van der Slikke, Elisabeth C., primary, Creutzberg, Carien L., primary, Kol, Arjan, primary, Plat, Annechien, primary, Glaire, Mark, primary, Church, David N., primary, Nijman, Hans W., primary, and de Bruyn, Marco, primary

Published
2023
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16. Supplementary Table 7 from A Transcriptionally Distinct CXCL13+CD103+CD8+ T-cell Population Is Associated with B-cell Recruitment and Neoantigen Load in Human Cancer

Author

Workel, Hagma H., primary, Lubbers, Joyce M., primary, Arnold, Roland, primary, Prins, Thalina M., primary, van der Vlies, Pieter, primary, de Lange, Kim, primary, Bosse, Tjalling, primary, van Gool, Inge C., primary, Eggink, Florine A., primary, Wouters, Maartje C.A., primary, Komdeur, Fenne L., primary, van der Slikke, Elisabeth C., primary, Creutzberg, Carien L., primary, Kol, Arjan, primary, Plat, Annechien, primary, Glaire, Mark, primary, Church, David N., primary, Nijman, Hans W., primary, and de Bruyn, Marco, primary

Published
2023
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17. Supplementary Tables 1-6, 8 from A Transcriptionally Distinct CXCL13+CD103+CD8+ T-cell Population Is Associated with B-cell Recruitment and Neoantigen Load in Human Cancer

Author

Workel, Hagma H., primary, Lubbers, Joyce M., primary, Arnold, Roland, primary, Prins, Thalina M., primary, van der Vlies, Pieter, primary, de Lange, Kim, primary, Bosse, Tjalling, primary, van Gool, Inge C., primary, Eggink, Florine A., primary, Wouters, Maartje C.A., primary, Komdeur, Fenne L., primary, van der Slikke, Elisabeth C., primary, Creutzberg, Carien L., primary, Kol, Arjan, primary, Plat, Annechien, primary, Glaire, Mark, primary, Church, David N., primary, Nijman, Hans W., primary, and de Bruyn, Marco, primary

Published
2023
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18. Supplementary Figures from A Transcriptionally Distinct CXCL13+CD103+CD8+ T-cell Population Is Associated with B-cell Recruitment and Neoantigen Load in Human Cancer

Author

Workel, Hagma H., primary, Lubbers, Joyce M., primary, Arnold, Roland, primary, Prins, Thalina M., primary, van der Vlies, Pieter, primary, de Lange, Kim, primary, Bosse, Tjalling, primary, van Gool, Inge C., primary, Eggink, Florine A., primary, Wouters, Maartje C.A., primary, Komdeur, Fenne L., primary, van der Slikke, Elisabeth C., primary, Creutzberg, Carien L., primary, Kol, Arjan, primary, Plat, Annechien, primary, Glaire, Mark, primary, Church, David N., primary, Nijman, Hans W., primary, and de Bruyn, Marco, primary

Published
2023
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19. Supplementary Methods from Treatment Regimen, Surgical Outcome, and T-cell Differentiation Influence Prognostic Benefit of Tumor-Infiltrating Lymphocytes in High-Grade Serous Ovarian Cancer

Author

Wouters, Maartje C.A., primary, Komdeur, Fenne L., primary, Workel, Hagma H., primary, Klip, Harry G., primary, Plat, Annechien, primary, Kooi, Neeltje M., primary, Wisman, G. Bea A., primary, Mourits, Marian J.E., primary, Arts, Henriette J.G., primary, Oonk, Maaike H.M., primary, Yigit, Refika, primary, de Jong, Steven, primary, Melief, Cornelis J.M., primary, Hollema, Harry, primary, Duiker, Evelien W., primary, Daemen, Toos, primary, de Bruyn, Marco, primary, and Nijman, Hans W., primary

Published
2023
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20. Supplementary Figure S1 from Treatment Regimen, Surgical Outcome, and T-cell Differentiation Influence Prognostic Benefit of Tumor-Infiltrating Lymphocytes in High-Grade Serous Ovarian Cancer

Author

Wouters, Maartje C.A., primary, Komdeur, Fenne L., primary, Workel, Hagma H., primary, Klip, Harry G., primary, Plat, Annechien, primary, Kooi, Neeltje M., primary, Wisman, G. Bea A., primary, Mourits, Marian J.E., primary, Arts, Henriette J.G., primary, Oonk, Maaike H.M., primary, Yigit, Refika, primary, de Jong, Steven, primary, Melief, Cornelis J.M., primary, Hollema, Harry, primary, Duiker, Evelien W., primary, Daemen, Toos, primary, de Bruyn, Marco, primary, and Nijman, Hans W., primary

Published
2023
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21. Data from Treatment Regimen, Surgical Outcome, and T-cell Differentiation Influence Prognostic Benefit of Tumor-Infiltrating Lymphocytes in High-Grade Serous Ovarian Cancer

Author

Wouters, Maartje C.A., primary, Komdeur, Fenne L., primary, Workel, Hagma H., primary, Klip, Harry G., primary, Plat, Annechien, primary, Kooi, Neeltje M., primary, Wisman, G. Bea A., primary, Mourits, Marian J.E., primary, Arts, Henriette J.G., primary, Oonk, Maaike H.M., primary, Yigit, Refika, primary, de Jong, Steven, primary, Melief, Cornelis J.M., primary, Hollema, Harry, primary, Duiker, Evelien W., primary, Daemen, Toos, primary, de Bruyn, Marco, primary, and Nijman, Hans W., primary

Published
2023
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22. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing:Follow-up results of the TRIDENT-2 study

Author

van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert Jan H., van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., and Galjaard, Robert Jan H.

Abstract

In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.

Published
2022

23. Cancer risks for other sites in addition to breast in CHEK2c.1100delC families

Author

Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, Arjen R., Adank, Muriel A., Hooning, Maartje J., Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Stommel-Jenner, D.J., de Groot, R., Vieveen, E., Collée, J.M., Geurts-Giele, W., Heemskerk-Gerritsen, B.A.M., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., Wevers, M.R., Mensenkamp, A.R., de Hullu, J.A., Ausems, M.G.E.M., Koudijs, M.J., Koole, W., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., Berger, L.P.V., van der Hout, A.H., de Bock, G.H., Yigit, R., Siesling, S., Verloop, J., and Voorham, Q.J.M.

Abstract

Female CHEK2c.1100delC heterozygotes are eligible for additional breast surveillance because of an increased breast cancer risk. Increased risks for other cancers have been reported. We studied whether CHEK2c.1100delC is associated with an increased risk for other cancers within these families.

Published
2024
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24. Deep immune profiling of ovarian tumors identifies minimal MHC-I expression after neoadjuvant chemotherapy as negatively associated with T-cell-dependent outcome

Author

Brunekreeft, Kim L., primary, Paijens, Sterre T., additional, Wouters, Maartje C.A., additional, Komdeur, Fenne L., additional, Eggink, Florine A., additional, Lubbers, Joyce M., additional, Workel, Hagma H., additional, Van Der Slikke, Elisabeth C., additional, Pröpper, Noor E.J., additional, Leffers, Ninke, additional, Adam, Julien, additional, Pijper, Harry, additional, Plat, Annechien, additional, Kol, Arjan, additional, Nijman, Hans W., additional, and De Bruyn, Marco, additional

Published
2020
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25. A Transcriptionally Distinct CXCL13+CD103+CD8+ T-cell Population Is Associated with B-cell Recruitment and Neoantigen Load in Human Cancer

Author

Workel, Hagma H., primary, Lubbers, Joyce M., additional, Arnold, Roland, additional, Prins, Thalina M., additional, van der Vlies, Pieter, additional, de Lange, Kim, additional, Bosse, Tjalling, additional, van Gool, Inge C., additional, Eggink, Florine A., additional, Wouters, Maartje C.A., additional, Komdeur, Fenne L., additional, van der Slikke, Elisabeth C., additional, Creutzberg, Carien L., additional, Kol, Arjan, additional, Plat, Annechien, additional, Glaire, Mark, additional, Church, David N., additional, Nijman, Hans W., additional, and de Bruyn, Marco, additional

Published
2019
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26. CD103+ tumor-infiltrating lymphocytes are tumor-reactive intraepithelial CD8+ T cells associated with prognostic benefit and therapy response in cervical cancer

Author

Komdeur, Fenne L., primary, Prins, Thalina M., additional, van de Wall, Stephanie, additional, Plat, Annechien, additional, Wisman, G. Bea A., additional, Hollema, Harry, additional, Daemen, Toos, additional, Church, David N., additional, de Bruyn, Marco, additional, and Nijman, Hans W., additional

Published
2017
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28. CD103+ intraepithelial T cells in high-grade serous ovarian cancer are phenotypically diverse TCRαβ+ CD8αβ+ T cells that can be targeted for cancer immunotherapy

Author

Komdeur, Fenne L., primary, Wouters, Maartje C.A., additional, Workel, Hagma H., additional, Tijans, Aline M., additional, Terwindt, Anouk L.J., additional, Brunekreeft, Kim L., additional, Plat, Annechien, additional, Klip, Harry G., additional, Eggink, Florine A., additional, Leffers, Ninke, additional, Helfrich, Wijnand, additional, Samplonius, Douwe F., additional, Bremer, Edwin, additional, Wisman, G. Bea A., additional, Daemen, Toos, additional, Duiker, Evelien W., additional, Hollema, Harry, additional, Nijman, Hans W., additional, and de Bruyn, Marco, additional

Published
2016
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29. Treatment Regimen, Surgical Outcome, and T-cell Differentiation Influence Prognostic Benefit of Tumor-Infiltrating Lymphocytes in High-Grade Serous Ovarian Cancer

Author

Wouters, Maartje C.A., primary, Komdeur, Fenne L., additional, Workel, Hagma H., additional, Klip, Harry G., additional, Plat, Annechien, additional, Kooi, Neeltje M., additional, Wisman, G. Bea A., additional, Mourits, Marian J.E., additional, Arts, Henriette J.G., additional, Oonk, Maaike H.M., additional, Yigit, Refika, additional, de Jong, Steven, additional, Melief, Cornelis J.M., additional, Hollema, Harry, additional, Duiker, Evelien W., additional, Daemen, Toos, additional, de Bruyn, Marco, additional, and Nijman, Hans W., additional

Published
2016
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30. High-grade serous carcinoma occurring after risk-reducing salpingo-oophorectomy in BRCA1/2 germline pathogenic variant carriers.

Author

Stroot IAS, Bart J, Hollema H, Wagner MM, Yigit R, van Doorn HC, de Hullu JA, Gaarenstroom KN, van Beurden M, van Lonkhuijzen LRCW, Slangen BFM, Zweemer RP, Gómez Garcia EB, Ausems MGEM, Komdeur FL, van Asperen CJ, Adank MA, Wevers MR, Hooning MJ, Mourits MJE, and de Bock GH

Abstract

Background: Risk-reducing salpingo-oophorectomy (RRSO) effectively prevents high-grade serous carcinoma (HGSC) in BRCA1/2 germline pathogenic variant (GPV) carriers. Still, some women develop HGSC after RRSO without pathologic findings. This study assessed long-term incidence and risk factors for developing HGSC after RRSO without pathologic findings., Methods: BRCA1/2 GPV carriers were selected from Hereditary Breast and Ovarian cancer in the Netherlands (HEBON) cohort. Follow-up data for HGSC after RRSO were obtained from the Dutch Nationwide Pathology Databank (PALGA) and confirmed by histopathological review. Cumulative incidence rates of HGSC were calculated using Kaplan-Meier analyses. Cox proportional hazards model was used to calculate hazard ratios (HRs) and 95% confidence intervals (CIs) for factors associated with an increased risk of HGSC following RRSO without pathologic findings., Results: A total of 2519 women were included, with a median follow-up of 13.4 years (range: 0.0-27.6). The 20-years cumulative incidence rate of HGSC was 1.5% (95% CI: 0.0-2.1) for BRCA1 and 0.2% (95% CI: 0.0-1.4) for BRCA2 GPV carriers. All women who developed HGSC underwent RRSO after the recommended age. Incomplete embedding of the RRSO specimen (HR: 4.2, 95% CI: 1.4-12.6), higher age at RRSO (HR per year: 1.1, 95% CI: 1.0-1.1), and carrying a BRCA1 GPV (HR: 12.1, 95% CI: 1.6-91.2) were associated with increased risk of HGSC., Conclusions: In BRCA1/2 GPV carriers, long-term incidence of HGSC after RRSO without pathologic findings was low. Strict adherence to guidelines regarding timely RRSO followed by complete specimen embedding can further reduce the risk of HGSC in the years following RRSO., (© The Author(s) 2024. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Published
2024
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31. A Transcriptionally Distinct CXCL13 + CD103 + CD8 + T-cell Population Is Associated with B-cell Recruitment and Neoantigen Load in Human Cancer.

Author

Workel HH, Lubbers JM, Arnold R, Prins TM, van der Vlies P, de Lange K, Bosse T, van Gool IC, Eggink FA, Wouters MCA, Komdeur FL, van der Slikke EC, Creutzberg CL, Kol A, Plat A, Glaire M, Church DN, Nijman HW, and de Bruyn M

Subjects
Antigens, Neoplasm immunology, Female, Humans, Antigens, CD immunology, B-Lymphocytes immunology, CD8-Positive T-Lymphocytes immunology, Chemokine CXCL13 immunology, Integrin alpha Chains immunology, Ovarian Neoplasms immunology, Receptors, Transforming Growth Factor beta immunology
Abstract

The chemokine CXCL13 mediates recruitment of B cells to tumors and is essential for the formation of tertiary lymphoid structures (TLSs). TLSs are thought to support antitumor immunity and are associated with improved prognosis. However, it remains unknown whether TLSs are formed in response to the general inflammatory character of the tumor microenvironment, or rather, are induced by (neo)antigen-specific adaptive immunity. We here report on the finding that the TGFβ-dependent CD103 + CD8 + tumor-infiltrating T-cell (TIL) subpopulation expressed and produced CXCL13. Accordingly, CD8 + T cells from peripheral blood activated in the presence of TGFβ upregulated CD103 and secreted CXCL13. Conversely, inhibition of TGFβ receptor signaling abrogated CXCL13 production. CXCL13 + CD103 + CD8 + TILs correlated with B-cell recruitment, TLSs, and neoantigen burden in six cohorts of human tumors. Altogether, our findings indicated that TGFβ plays a noncanonical role in coordinating immune responses against human tumors and suggest a potential role for CXCL13 + CD103 + CD8 + TILs in mediating B-cell recruitment and TLS formation in human tumors., (©2019 American Association for Cancer Research.)

Published
2019
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