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Your search keyword '"Gille, J.J.P."' showing total 27 results
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27 results on '"Gille, J.J.P."'

1. 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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2. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

Author

Noguès, Catherine, Laborde, Lilian, Pontois, Pauline, Breysse, Emanuelle, Berline, Margot, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Buecher, Bruno, Colas, Chrystelle, Caron, Olivier, Mouret-Fourme, Emmanuelle, Saule, Claire, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valérie, Dussard, Sophie, Berthet, Pascaline, Faivre, Laurence, Luporsi, Elisabeth, Mari, Véronique, Gladieff, Laurence, Gesta, Paul, Chieze-Valéro, Stéphanie, Moretta, Jessica, Sobol, Hagay, Eisinger, François, Popovici, Cornel, Longy, Michel, Grivelli, Louise, Soubrier, Florent, Benusiglio, Patrick, Coupier, Isabelle, Pujol, Pascal, Corsini, Carole, Morin-Meschin, Marie-Emmanuelle, Lortholary, Alain, Adenis, Claude, Maillez, Audrey, Nguyen, Tan Dat, Delnatte, Capucine, Abadie, Caroline, Tinat, Julie, Tennevet, Isabelle, Maugard, Christine, Bignon, Yves-Jean, Gay Bellile, Mathilde, Penet, Clotilde, Dreyfus, Hélène, Cohen-Haguenauer, Odile, Gilbert, Brigitte, Venat-Bouvet, Laurence, Leroux, Dominique, Legrand, Clémentine, Zattara-Cannoni, Hélène, Layet, Valérie, Lacaze, Elodie, Fert-Ferrer, Sandra, Bera, Odile, Gilbert-Dussardier, Brigitte, Tougeron, David, Lallaoui, Hakima, Rookus, M.A., Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Jenner, D.J., Collée, J.M., van den Ouweland, A.M.W., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., van Cronenburg, T.C.T.E.F., Wevers, M.R., Mensenkamp, A.R., Ausems, M.G.E.M., Koudijs, M.J., van de Beek, I., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., de Boer, M., Berger, L.P.V., van der Hout, A.H., Mourits, M.J.E., de Bock, G.H., Siesling, S., Verloop, J., van den Broek, E.C., Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Håkan, Mooij, Thea M., Roos-Blom, Marie-José, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai-Ren, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J.E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Rantala, Johanna, Osorio, Ana, Hopper, John L., Phillips, Kelly-Anne, Milne, Roger L., Beth Terry, Mary, Engel, Christoph, Kast, Karin, Goldgar, David E., van Leeuwen, Flora E., Easton, Douglas F., Andrieu, Nadine, and Rookus, Matti A.

Published
2021
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8. STRAD in Peutz-Jeghers syndrome and sporadic cancers

Author

de Leng, W.W.J., Keller, J.J., Luiten, S., Musler, A.R., Jansen, M., Baas, A.F., de Rooij, F.W.M., Gille, J.J.P., Menko, F.H., Offerhaus, G.J.A, and Weterman, M.A.J.

Subjects
Peutz-Jeghers syndrome -- Physiological aspects, Tumor suppressor genes -- Analysis, Health
Published
2005

9. Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

Author

Jonge, M.M. de, Ritterhouse, L.L., Kroon, C.D. de, Vreeswijk, M.P.G., Segal, J.P., Puranik, R., Rookus, M.A., Hogervorst, F.B.L., Leeuwen, F.E. van, Adank, M.A., Schmidt, M.K., Jenner, D.J., Collee, J.M., Ouweland, A.M.W. van den, Hooning, M.J., Boere, I.A., Asperen, C.J. van, Devilee, P., Luijt, R.B. van der, Cronenburg, T.C.T.E.F. van, Wevers, M.R., Mensenkamp, A.R., Ausems, M.G.E.M., Koudijs, M.J., Meijers-Heijboer, H.E.J., Os, T.A.M. van, Engelen, K. van, Gille, J.J.P., Gomez-Garcia, E.B., Blok, M.J., Boer, M. de, Oosterwijk, J.C., Hout, A.H. van der, Mourits, M.J., Bock, G.H. de, Siesling, S., Verloop, J., Broek, E.C. van den, Hollema, H., Smit, V.T.H.B.M., Howitt, B.E., Bosse, T., HEBON Grp, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Life Course Epidemiology (LCE), ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Promovendi ODB, Clinical Genetics, and Medical Oncology

Subjects
0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, MAINTENANCE THERAPY, TAMOXIFEN TREATMENT, PROGNOSIS, Germline, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, All institutes and research themes of the Radboud University Medical Center, Internal medicine, medicine, Carcinoma, BREAST-CANCER, RISK, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], business.industry, MUTATIONS, Endometrial cancer, WOMEN, Histology, medicine.disease, OVARIAN, UTERINE SEROUS CARCINOMA, 030104 developmental biology, 030220 oncology & carcinogenesis, CLEAR-CELL, Ovarian cancer, business, Cohort study, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Abstract

Purpose: Whether endometrial carcinoma (EC) should be considered part of the gBRCA1/2-associated hereditary breast and ovarian cancer (HBOC) syndrome is topic of debate. We sought to assess whether ECs occurring in gBRCA carriers are enriched for clinicopathologic and molecular characteristics, thereby supporting a causal relationship. Experimental Design: Thirty-eight gBRCA carriers that developed EC were selected from the nationwide cohort study on hereditary breast and ovarian cancer in the Netherlands (HEBON), and these were supplemented with four institutional cases. Tumor tissue was retrieved via PALGA (Dutch Pathology Registry). Nineteen morphologic features were scored and histotype was determined by three expert gynecologic pathologists, blinded for molecular analyses (UCM-OncoPlus Assay including 1213 genes). ECs with LOH of the gBRCA-wild-type allele (gBRCA/LOHpos) were defined “gBRCA-associated,” those without LOH (gBRCA/LOHneg) were defined “sporadic.” Results: LOH could be assessed for 40 ECs (30 gBRCA1, 10 gBRCA2), of which 60% were gBRCA/LOHpos. gBRCA/LOHpos ECs were more frequently of nonendometrioid (58%, P = 0.001) and grade 3 histology (79%, P < 0.001). All but two were in the TP53-mutated TCGA-subgroup (91.7%, P < 0.001). In contrast, gBRCA/LOHneg ECs were mainly grade 1 endometrioid EC (94%) and showed a more heterogeneous distribution of TCGA-molecular subgroups: POLE-mutated (6.3%), MSI-high (25%), NSMP (62.5%), and TP53-mutated (6.3%). Conclusions: We provide novel evidence in favor of EC being part of the gBRCA-associated HBOC-syndrome. gBRCA-associated ECs are enriched for EC subtypes associated with unfavorable clinical outcome. These findings have profound therapeutic consequences as these patients may benefit from treatment strategies such as PARP inhibitors. In addition, it should influence counseling and surveillance of gBRCA carriers.

Published
2019

10. Multiple fibroadenomas harbouring carcinoma in situ in a woman with a family history of breast/ovarian cancer. (Letters to JCP)

Author

Kuijper, A., Preisler-Adams, S.S., Rahusen, F.D., Gille, J.J.P., Wall, E. van der, and van Diest, P.J.

Subjects
Fibroadenoma -- Diagnosis -- Case studies -- Genetic aspects -- Physiological aspects, Breast cancer -- Diagnosis -- Case studies -- Genetic aspects -- Physiological aspects, Health, Diagnosis, Physiological aspects, Genetic aspects, Case studies
Abstract

A 46 year old woman with a family history of breast and ovarian cancer presented with multiple fibroadenomas in bath breasts. From three fibroadenomas removed from the left breast carcinoma [...]

Published
2002

12. Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Author

Ploeg, C.P.B. van der, Akker-van Marle, M.E. van den, Vernooij-van Langen, A.M.M., Elvers, L.H., Gille, J.J.P., Verkerk, P.H., Dankert-Roelse, J.E., Loeber, J.G., Triepels, R.H., Pal, S.M. van der, Dompeling, E., Pals, G., Gulmans, V.A.M., Oey-Spauwen, M.J.W., Wijnands, Y.H.H.M., Castricum, L.M., Arets, H.G.M., Ent, C.K. van der, Tiddens, H.A.W.M., Rijke, Y.B. de, and Yntema, J.B.

Subjects
Newborn screening, Newborn disease, DNA sequence, Major clinical study, behavioral disciplines and activities, Cystic fibrosis, Behavioural Changes, CH - Child Health, Quality adjusted life year, Netherlands, Immunoreactive trypsinogen pancreatitis associated protein DNA sequencing, Cost effectiveness analysis, Diagnostic test accuracy study, Childhood mortality, Early diagnosis, Newborn, Immunoreactive trypsinogen DNA, Sensitivity and specificity, Immunoreactive trypsinogen pancreatitis associated protein testing, Health, Cost-effectiveness, ELSS - Earth, Life and Social Sciences, Healthy for Life, Immunoreactive trypsinogen DNA sequencing, Sensitivity analysis, Controlled study, Healthy Living, Sweat test, Genetic counseling
Abstract

BACKGROUND: Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival. METHODS: We used primary data to compare cost-effectiveness of four screening strategies for NBSCF, i.e. immunoreactive trypsinogen-testing followed by pancreatitis-associated protein-testing (IRT-PAP), IRT-DNA, IRT-DNA-sequencing, and IRT-PAP-DNA-sequencing, each compared to no-screening. A previously developed decision analysis model for NBSCF was fed with model parameters mainly based on a study evaluating two novel screening strategies among 145,499 newborns in The Netherlands. RESULTS: The four screening strategies had cost-effectiveness ratios varying from €23,600 to €29,200 per life-year gained. IRT-PAP had the most favourable cost-effectiveness ratio. Additional life-years can be gained by IRT-DNA but against higher costs. When treatment costs reduce with 5% due to early diagnosis, screening will lead to financial savings. CONCLUSION: NBSCF is as an economically justifiable public health initiative. Of the four strategies tested IRT-PAP is the most economic and this finding should be included in any decision making model, when considering implementation of newborn screening for CF

Published
2015

13. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

Author

Gille, J.J.P., Hogervorst, F.B.L., Pals, G, Wijnen, J Th, van Schooten, R J, Dommering, C J, Meijer, G A, Craanen, M E, Nederlof, P M, de Jong, D, McElgunn, C J, Schouten, J P, and Menko, F H

Subjects
*COLON cancer, *GENETIC mutation, *MSH2 gene, *PROTEINS, *RESEARCH, *DNA, *NUCLEAR proteins, *RESEARCH methodology, *HEREDITARY nonpolyposis colorectal cancer, *FAMILIES, *EVALUATION research, *COLORECTAL cancer, *COMPARATIVE studies, *DNA-binding proteins, *GENETIC techniques, *POLYMERASE chain reaction, *CARRIER proteins, *GENEALOGY, *LONGITUDINAL method
Abstract

Hereditary non-polyposis colorectal cancer is an autosomal dominant condition due to germline mutations in DNA-mismatch-repair genes, in particular MLH1, MSH2 and MSH6. Here we describe the application of a novel technique for the detection of genomic deletions in MLH1 and MSH2. This method, called multiplex ligation-dependent probe amplification, is a quantitative multiplex PCR approach to determine the relative copy number of each MLH1 and MSH2 exon. Mutation screening of genes was performed in 126 colorectal cancer families selected on the basis of clinical criteria and in addition, for a subset of families, the presence of microsatellite instability (MSI-high) in tumours. Thirty-eight germline mutations were detected in 37 (29.4%) of these kindreds, 31 of which have a predicted pathogenic effect. Among families with MSI-high tumours 65.7% harboured germline gene defects. Genomic deletions accounted for 54.8% of the pathogenic mutations. A complete deletion of the MLH1 gene was detected in two families. The multiplex ligation-dependent probe amplification approach is a rapid method for the detection of genomic deletions in MLH1 and MSH2. In addition, it reveals alterations that might escape detection using conventional diagnostic techniques. Multiplex ligation-dependent probe amplification might be considered as an early step in the molecular diagnosis of hereditary non-polyposis colorectal cancer. [ABSTRACT FROM AUTHOR]

Published
2002
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