22 results on '"Ausems M"'
Search Results
2. European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer
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Vergote, I., Ausems, M., Brasiuniene, B., Brenton, J., Büttner, R., Colombo, N., González-Martín, A., Harter, P., Lambrechts, D., Lorusso, D., Madry, R., Mirza, M.R., Pujol, P., Ray-Coquard, I., Abreu, M., Balboni, S., Banerjee, S., Barberis, M., Barretina Ginesta, M.P., Baurain, J.-F., Bignami, M., Bjorge, L., Blecharz, P., Bruchim, I., Capilna, M., Cerana, N., Cicchetti, A., Collins, D., Concin, N., D’Incalci, M., Davidson, B., de la Motte Rouge, T., De Iaco, P., Demirkiran, F., Denys, H., Doerk, T., Dorum, A., Ferrero, A., Fidalgo, A.P., Genuardi, M., Gladieff, L., Glasspool, R., Grimm, C., Gultekin, M., Hahnen, E., Hasenburg, A., Hegmane, A., Heinzelmann, V., Hogdall, E., Janavicius, R., Jarmalaite, S., Kalachand, R., Kaneva, R., Kilickap, S., Kocian, R., Kolencik, D., Kristeleit, R., Kryzhanivska, A., Leary, A., Lemley, B., Ligtenberg, M., López-Guerrero, J.A., Lord, C.J., Avall-Lundqvist, E., Maenpaa, J., Mahner, S., Marmé, F., Marth, C., McNeish, I., Merkelbach-Bruse, S., Mourits, M., Normanno, N., Oaknin, A., Ojamaa, K., Papdimitriou, C., Penault-Llorca, F., Perrone, A.M., Pignata, S., Pikarsky, E., Rouleau, E., Rubio, M., Sapino, A., Schmalfeldt, B., Sehouli, J., Shapira, R., Steffensen, K.D., Sukhin, V., Syrios, J., Szallasi, Z., Taskiran, C., Terzic, M., Tischkowitz, M., Toth, I., Van de Vijver, K., Vardar, M.A., Wasag, B., Wimberger, P., Witteveen, E., Brenton, J.D., and Ausems, M.G.E.M.
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- 2022
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3. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families
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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.
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- 2024
4. European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer
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Vergote, I, Gonzalez-Martin, A, Ray-Coquard, I, Harter, P, Colombo, N, Pujol, P, Lorusso, D, Mirza, M, Brasiuniene, B, Madry, R, Brenton, J, Ausems, M, Buttner, R, Lambrechts, D, Abreu, M, Balboni, S, Banerjee, S, Barberis, M, Barretina Ginesta, M, Baurain, J, Bignami, M, Bjorge, L, Blecharz, P, Bruchim, I, Capilna, M, Cerana, N, Cicchetti, A, Collins, D, Concin, N, D'Incalci, M, Davidson, B, de la Motte Rouge, T, De Iaco, P, Demirkiran, F, Denys, H, Doerk, T, Dorum, A, Ferrero, A, Fidalgo, A, Genuardi, M, Gladieff, L, Glasspool, R, Grimm, C, Gultekin, M, Hahnen, E, Hasenburg, A, Hegmane, A, Heinzelmann, V, Hogdall, E, Janavicius, R, Jarmalaite, S, Kalachand, R, Kaneva, R, Kilickap, S, Kocian, R, Kolencik, D, Kristeleit, R, Kryzhanivska, A, Leary, A, Lemley, B, Ligtenberg, M, Lopez-Guerrero, J, Lord, C, Avall-Lundqvist, E, Maenpaa, J, Mahner, S, Marme, F, Marth, C, Mcneish, I, Merkelbach-Bruse, S, Mourits, M, Normanno, N, Oaknin, A, Ojamaa, K, Papdimitriou, C, Penault-Llorca, F, Perrone, A, Pignata, S, Pikarsky, E, Rouleau, E, Rubio, M, Sapino, A, Schmalfeldt, B, Sehouli, J, Shapira, R, Steffensen, K, Sukhin, V, Syrios, J, Szallasi, Z, Taskiran, C, Terzic, M, Tischkowitz, M, Toth, I, Van de Vijver, K, Vardar, M, Wasag, B, Wimberger, P, Witteveen, E, Vergote I., Gonzalez-Martin A., Ray-Coquard I., Harter P., Colombo N., Pujol P., Lorusso D., Mirza M. R., Brasiuniene B., Madry R., Brenton J. D., Ausems M. G. E. M., Buttner R., Lambrechts D., Ausems M., Brenton J., Abreu M., Balboni S., Banerjee S., Barberis M., Barretina Ginesta M. P., Baurain J. -F., Bignami M., Bjorge L., Blecharz P., Bruchim I., Capilna M., Cerana N., Cicchetti A., Collins D., Concin N., D'Incalci M., Davidson B., de la Motte Rouge T., De Iaco P., Demirkiran F., Denys H., Doerk T., Dorum A., Ferrero A., Fidalgo A. P., Genuardi M., Gladieff L., Glasspool R., Grimm C., Gultekin M., Hahnen E., Hasenburg A., Hegmane A., Heinzelmann V., Hogdall E., Janavicius R., Jarmalaite S., Kalachand R., Kaneva R., Kilickap S., Kocian R., Kolencik D., Kristeleit R., Kryzhanivska A., Leary A., Lemley B., Ligtenberg M., Lopez-Guerrero J. A., Lord C. J., Avall-Lundqvist E., Maenpaa J., Mahner S., Marme F., Marth C., McNeish I., Merkelbach-Bruse S., Mourits M., Normanno N., Oaknin A., Ojamaa K., Papdimitriou C., Penault-Llorca F., Perrone A. M., Pignata S., Pikarsky E., Rouleau E., Rubio M., Sapino A., Schmalfeldt B., Sehouli J., Shapira R., Steffensen K. D., Sukhin V., Syrios J., Szallasi Z., Taskiran C., Terzic M., Tischkowitz M., Toth I., Van de Vijver K., Vardar M. A., Wasag B., Wimberger P., Witteveen E., Vergote, I, Gonzalez-Martin, A, Ray-Coquard, I, Harter, P, Colombo, N, Pujol, P, Lorusso, D, Mirza, M, Brasiuniene, B, Madry, R, Brenton, J, Ausems, M, Buttner, R, Lambrechts, D, Abreu, M, Balboni, S, Banerjee, S, Barberis, M, Barretina Ginesta, M, Baurain, J, Bignami, M, Bjorge, L, Blecharz, P, Bruchim, I, Capilna, M, Cerana, N, Cicchetti, A, Collins, D, Concin, N, D'Incalci, M, Davidson, B, de la Motte Rouge, T, De Iaco, P, Demirkiran, F, Denys, H, Doerk, T, Dorum, A, Ferrero, A, Fidalgo, A, Genuardi, M, Gladieff, L, Glasspool, R, Grimm, C, Gultekin, M, Hahnen, E, Hasenburg, A, Hegmane, A, Heinzelmann, V, Hogdall, E, Janavicius, R, Jarmalaite, S, Kalachand, R, Kaneva, R, Kilickap, S, Kocian, R, Kolencik, D, Kristeleit, R, Kryzhanivska, A, Leary, A, Lemley, B, Ligtenberg, M, Lopez-Guerrero, J, Lord, C, Avall-Lundqvist, E, Maenpaa, J, Mahner, S, Marme, F, Marth, C, Mcneish, I, Merkelbach-Bruse, S, Mourits, M, Normanno, N, Oaknin, A, Ojamaa, K, Papdimitriou, C, Penault-Llorca, F, Perrone, A, Pignata, S, Pikarsky, E, Rouleau, E, Rubio, M, Sapino, A, Schmalfeldt, B, Sehouli, J, Shapira, R, Steffensen, K, Sukhin, V, Syrios, J, Szallasi, Z, Taskiran, C, Terzic, M, Tischkowitz, M, Toth, I, Van de Vijver, K, Vardar, M, Wasag, B, Wimberger, P, Witteveen, E, Vergote I., Gonzalez-Martin A., Ray-Coquard I., Harter P., Colombo N., Pujol P., Lorusso D., Mirza M. R., Brasiuniene B., Madry R., Brenton J. D., Ausems M. G. E. M., Buttner R., Lambrechts D., Ausems M., Brenton J., Abreu M., Balboni S., Banerjee S., Barberis M., Barretina Ginesta M. P., Baurain J. -F., Bignami M., Bjorge L., Blecharz P., Bruchim I., Capilna M., Cerana N., Cicchetti A., Collins D., Concin N., D'Incalci M., Davidson B., de la Motte Rouge T., De Iaco P., Demirkiran F., Denys H., Doerk T., Dorum A., Ferrero A., Fidalgo A. P., Genuardi M., Gladieff L., Glasspool R., Grimm C., Gultekin M., Hahnen E., Hasenburg A., Hegmane A., Heinzelmann V., Hogdall E., Janavicius R., Jarmalaite S., Kalachand R., Kaneva R., Kilickap S., Kocian R., Kolencik D., Kristeleit R., Kryzhanivska A., Leary A., Lemley B., Ligtenberg M., Lopez-Guerrero J. A., Lord C. J., Avall-Lundqvist E., Maenpaa J., Mahner S., Marme F., Marth C., McNeish I., Merkelbach-Bruse S., Mourits M., Normanno N., Oaknin A., Ojamaa K., Papdimitriou C., Penault-Llorca F., Perrone A. M., Pignata S., Pikarsky E., Rouleau E., Rubio M., Sapino A., Schmalfeldt B., Sehouli J., Shapira R., Steffensen K. D., Sukhin V., Syrios J., Szallasi Z., Taskiran C., Terzic M., Tischkowitz M., Toth I., Van de Vijver K., Vardar M. A., Wasag B., Wimberger P., and Witteveen E.
- Abstract
Background: Homologous recombination repair (HRR) enables fault-free repair of double-stranded DNA breaks. HRR deficiency is predicted to occur in around half of high-grade serous ovarian carcinomas. Ovarian cancers harbouring HRR deficiency typically exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi). Current guidelines recommend a range of approaches for genetic testing to identify predictors of sensitivity to PARPi in ovarian cancer and to identify genetic predisposition. Design: To establish a European-wide consensus for genetic testing (including the genetic care pathway), decision making and clinical management of patients with recently diagnosed advanced ovarian cancer, and the validity of biomarkers to predict the effectiveness of PARPi in the first-line setting. The collaborative European experts’ consensus group consisted of a steering committee (n = 14) and contributors (n = 84). A (modified) Delphi process was used to establish consensus statements based on a systematic literature search, conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. Results: A consensus was reached on 34 statements amongst 98 caregivers (including oncologists, pathologists, clinical geneticists, genetic researchers, and patient advocates). The statements concentrated on (i) the value of testing for BRCA1/2 mutations and HRR deficiency testing, including when and whom to test; (ii) the importance of developing new and better HRR deficiency tests; (iii) the importance of germline non-BRCA HRR and mismatch repair gene mutations for predicting familial risk, but not for predicting sensitivity to PARPi, in the first-line setting; (iv) who should be able to inform patients about genetic testing, and what training and education should these caregivers receive. Conclusion: These consensus recommendations, from a multidisciplinary panel of experts from across Europe, provide clear guidance on the use of BRCA and HRR de
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- 2022
5. Variations in Clinical Practice: Assessing Clinical Care Processes According to Clinical Guidelines in a National Cohort of Hospice Patients
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de Graaf, E, Grant, M, van de Baan, F, Ausems, M, Verboeket-Crul, C, Leget, C, Teunissen, S, de Graaf, E, Grant, M, van de Baan, F, Ausems, M, Verboeket-Crul, C, Leget, C, and Teunissen, S
- Abstract
Background: National clinical guidelines have been developed internationally to reduce variations in clinical practices and promote the quality of palliative care. In The Netherlands, there is considerable variability in the organisation and care processes of inpatient palliative care, with three types of hospices - Volunteer-Driven Hospices (VDH), Stand-Alone Hospices (SAH), and nursing home Hospice Units (HU). Aim: This study aims to examine clinical practices in palliative care through different hospice types and identify variations in care. Methods: Retrospective cohort study utilising clinical documentation review, including patients who received inpatient palliative care at 51 different hospices and died in 2017 or 2018. Care provision for each patient for the management of pain, delirium and palliative sedation were analysed according to the Dutch national guidelines. Results: 412 patients were included: 112 patients who received treatment for pain, 53 for delirium, and 116 patients underwent palliative sedation therapy. Care was provided in accordance with guidelines for pain in 32%, 61% and 47% (P = .047), delirium in 29%, 78% and 79% (P = .0016), and palliative sedation in 35%, 63% and 42% (P = .067) of patients who received care in VDHs, SAHs and HUs respectively. When all clinical practices were considered, patient care was conducted according to the guidelines for 33% of patients in VDHs, 65% in SAHs, and 50% in HUs (P < .001). Conclusions: The data demonstrate that care practices are not standardised throughout Dutch hospices and exhibit significant variations between type of hospice.
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- 2023
6. Genetic Aspects and Molecular Testing in Prostate Cancer: A Report from a Dutch Multidisciplinary Consensus Meeting
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Mehra, N., Kloots, I., Vlaming, M., Aluwini, S., Dewulf, E., Oprea-Lager, D.E., Poel, H. van der, Stoevelaar, H., Yakar, D., Bangma, Chris H., Bekers, E., Bergh, Roderick van den, Bergman, A.M., Berkmortel, F. van den, Boudewijns, S, Dinjens, W.N., Futterer, J.J., Hulle, T. van der, Jenster, G., Kroeze, L., Kruchten, M. van, Leenders, G. van, Leeuwen, P.J. van, Leng, W.W.J. de, Moorselaar, R.J.A. van, Noordzij, W., Oldenburg, R.A., Oort, I.M. van, Oving, I., Schalken, J.A., Schoots, I.G., Schuuring, E., Smeenk, R.J., Vanneste, B.G.L., Vegt, E, Vis, Andre N., Vries, K. de, Willemse, P.M., Wondergem, M., Ausems, M., Mehra, N., Kloots, I., Vlaming, M., Aluwini, S., Dewulf, E., Oprea-Lager, D.E., Poel, H. van der, Stoevelaar, H., Yakar, D., Bangma, Chris H., Bekers, E., Bergh, Roderick van den, Bergman, A.M., Berkmortel, F. van den, Boudewijns, S, Dinjens, W.N., Futterer, J.J., Hulle, T. van der, Jenster, G., Kroeze, L., Kruchten, M. van, Leenders, G. van, Leeuwen, P.J. van, Leng, W.W.J. de, Moorselaar, R.J.A. van, Noordzij, W., Oldenburg, R.A., Oort, I.M. van, Oving, I., Schalken, J.A., Schoots, I.G., Schuuring, E., Smeenk, R.J., Vanneste, B.G.L., Vegt, E, Vis, Andre N., Vries, K. de, Willemse, P.M., Wondergem, M., and Ausems, M.
- Abstract
Item does not contain fulltext, BACKGROUND: Germline and tumour genetic testing in prostate cancer (PCa) is becoming more broadly accepted, but testing indications and clinical consequences for carriers in each disease stage are not yet well defined. OBJECTIVE: To determine the consensus of a Dutch multidisciplinary expert panel on the indication and application of germline and tumour genetic testing in PCa. DESIGN SETTING AND PARTICIPANTS: The panel consisted of 39 specialists involved in PCa management. We used a modified Delphi method consisting of two voting rounds and a virtual consensus meeting. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Consensus was reached if ≥75% of the panellists chose the same option. Appropriateness was assessed by the RAND/UCLA appropriateness method. RESULTS AND LIMITATIONS: Of the multiple-choice questions, 44% reached consensus. For men without PCa having a relevant family history (familial PCa/BRCA-related hereditary cancer), follow-up by prostate-specific antigen was considered appropriate. For patients with low-risk localised PCa and a family history of PCa, active surveillance was considered appropriate, except in case of the patient being a BRCA2 germline pathogenic variant carrier. Germline and tumour genetic testing should not be done for nonmetastatic hormone-sensitive PCa in the absence of a relevant family history of cancer. Tumour genetic testing was deemed most appropriate for the identification of actionable variants, with uncertainty for germline testing. For tumour genetic testing in metastatic castration-resistant PCa, consensus was not reached for the timing and panel composition. The principal limitations are as follows: (1) a number of topics discussed lack scientific evidence, and therefore the recommendations are partly opinion based, and (2) there was a small number of experts per discipline. CONCLUSIONS: The outcomes of this Dutch consensus meeting may provide further guidance on genetic counselling and molecular testing related to PCa.
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- 2023
7. Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling
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Cancer, Genetica Sectie Oncogenetica, Genetica Klinische Genetica, MS CGO, Genetica, Genetica Oper.Mang. Clinical Genetics, Staf strategisch beleid, Genetica Sectie Genoomdiagnostiek, Bokkers, K., Bleiker, E. M.A., Aalfs, C. M., van Dalen, T., Velthuizen, M. E., Duijveman, P., Sijmons, R. H., Koole, W., Schoenmaeckers, E. J.P., Ausems, M. G.E.M., Cancer, Genetica Sectie Oncogenetica, Genetica Klinische Genetica, MS CGO, Genetica, Genetica Oper.Mang. Clinical Genetics, Staf strategisch beleid, Genetica Sectie Genoomdiagnostiek, Bokkers, K., Bleiker, E. M.A., Aalfs, C. M., van Dalen, T., Velthuizen, M. E., Duijveman, P., Sijmons, R. H., Koole, W., Schoenmaeckers, E. J.P., and Ausems, M. G.E.M.
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- 2023
8. Patients’ experiences with pre-test genetic counseling provided by breast cancer healthcare professionals: Results from a large prospective multicenter study
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Staf strategisch beleid, Genetica Sectie Oncogenetica, Genetica, CTC, MS CGO, Cancer, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Bokkers, K., Bleiker, E. M.A., Velthuizen, M. E., Koelemij, R., Burgmans, J. P.J., Klinkenbijl, J. H., Schouten van der Velden, A. P., Vermulst, N., Huizinga, B. F., Witkamp, A. J., Frakking, T., Brohet, R. M., Aalfs, C. M., Koole, W., Schoenmaeckers, E. J.P., Ausems, M. G.E.M., Staf strategisch beleid, Genetica Sectie Oncogenetica, Genetica, CTC, MS CGO, Cancer, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Bokkers, K., Bleiker, E. M.A., Velthuizen, M. E., Koelemij, R., Burgmans, J. P.J., Klinkenbijl, J. H., Schouten van der Velden, A. P., Vermulst, N., Huizinga, B. F., Witkamp, A. J., Frakking, T., Brohet, R. M., Aalfs, C. M., Koole, W., Schoenmaeckers, E. J.P., and Ausems, M. G.E.M.
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- 2023
9. Variations in Clinical Practice: Assessing Clinical Care Processes According to Clinical Guidelines in a National Cohort of Hospice Patients
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Graaf, de E., van der Baan, F., Ausems, M., Verboeket-Crul, C., Leget, Carlo J. W., Teunissen, S., A meaningful life in a just and caring society, and Care Ethics
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- 2023
10. Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis
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Witjes, V.M., Bommel, M.H.D. van, Ligtenberg, M.J.L., Vos, J.R., Mourits, M.J.E., Ausems, M., Hullu, J.A. de, Bosse, Tjalling, Hoogerbrugge, N., Witjes, V.M., Bommel, M.H.D. van, Ligtenberg, M.J.L., Vos, J.R., Mourits, M.J.E., Ausems, M., Hullu, J.A. de, Bosse, Tjalling, and Hoogerbrugge, N.
- Abstract
Contains fulltext : 244552.pdf (Publisher’s version ) (Open Access), BACKGROUND: Histology restricted genetic predisposition testing of ovarian carcinoma patients is a topic of debate as the prevalence of BRCA1/2 pathogenic variants (PVs) in various histological subtypes is ambiguous. Our primary aim was to investigate the proportion of germline BRCA1/2 PVs per histological subtype. Additionally, we evaluated (i) proportion of somatic BRCA1/2 PVs and (ii) proportion of germline PVs in other ovarian carcinoma risk genes. METHODS: PubMed, EMBASE and Web of Science were systematically searched and we included all studies reporting germline BRCA1/2 PVs per histological subtype. Pooled proportions were calculated using a random-effects meta-analysis model. Subsets of studies were used for secondary analyses. RESULTS: Twenty-eight studies were identified. The overall estimated proportion of germline BRCA1/2 PVs was 16.8% (95% CI 14.6 to 19.2). Presence differed substantially among patients with varying histological subtypes of OC; proportions being highest in high-grade serous (22.2%, 95% CI 19.6 to 25.0) and lowest in clear cell (3.0%, 95% CI 1.6 to 5.6) and mucinous (2.5%, 95% CI 0.6 to 9.6) carcinomas. Somatic BRCA1/2 PVs were present with total estimated proportion of 6.0% (95% CI 5.0 to 7.3), based on a smaller subset of studies. Germline PVs in BRIP1, RAD51C, RAD51D, PALB2, and ATM were present in approximately 3%, based on a subset of nine studies. CONCLUSION: Germline BRCA1/2 PVs are most frequently identified in high-grade serous ovarian carcinoma patients, but are also detected in patients having ovarian carcinomas of other histological subtypes. Limiting genetic predisposition testing to high-grade serous ovarian carcinoma patients will likely be insufficient to identify all patients with a germline PV.
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- 2022
11. Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study
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Barele, M. van, Rieborn, A., Heemskerk-Gerritsen, B.A., Obdeijn, I.M., Koppert, L.B., Loo, C.E., Tollenaar, R., Ausems, M., Beek, I. van de, Berger, L.P.V., Boer, M den, Hest, L.P. van, Kets, C.M., Rookus, M., Schmidt, M.K., Jager, Agnes, Hooning, M.J., Barele, M. van, Rieborn, A., Heemskerk-Gerritsen, B.A., Obdeijn, I.M., Koppert, L.B., Loo, C.E., Tollenaar, R., Ausems, M., Beek, I. van de, Berger, L.P.V., Boer, M den, Hest, L.P. van, Kets, C.M., Rookus, M., Schmidt, M.K., Jager, Agnes, and Hooning, M.J.
- Abstract
Contains fulltext : 252032.pdf (Publisher’s version ) (Open Access), PURPOSE: Intensive screening in BRCA1/2 mutation carriers aims to improve breast cancer (BC) prognosis. Our aim is to clarify the prognostic impact of tumor size in BRCA mutation carriers with a pT1 BC, which is currently unclear. We are especially interested in differences between pT1a, pT1b, and pT1c regarding the prognosis of node-negative breast cancer, the effect of chemotherapy, and the prevalence of lymph node involvement. METHODS: For this study, BRCA1/2-associated BC patients were selected from a nationwide cohort. Primary outcomes were 10-year overall survival (OS) per pT1a-b-c group and the effect of chemotherapy on prognosis of node-negative BC, using Kaplan-Meier and Cox models. Finally, we evaluated lymph node involvement per pT1a-b-c group. RESULTS: 963 women with pT1 BRCA1/2-associated BC diagnosed between 1990 and 2017 were included, of which 679 had pN0 BC. After a median follow-up of 10.5 years, 10-year OS in patients without chemotherapy was 77.1% in pT1cN0 and lower than for pT1aN0 (91.4%, p = 0.119) and pT1bN0 (90.8%, p = 0.024). OS was better with than without chemotherapy for pT1cN0 (91.6% vs. 77.1%, p = 0.001; hazard ratio (HR) 0.56, 95% confidence interval (CI): 0.21-1.48). Lymph node involvement was 24.9% in pT1c, 18.8% in pT1b, and 8.6% in pT1a. CONCLUSION: Smaller tumor size is associated with better OS and less lymph node involvement in pT1 BRCA1/2-associated BC patients. The results suggest that early detection in BRCA1/2 mutation carriers of pT1a/b BC may reduce mortality and the need for systemic therapy.
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- 2022
12. Variations in Clinical Practices in Dutch Hospice Care
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Palliatieve Zorg, Cancer, Onderzoek Medische Oncologie, JC onderzoeksprogramma Kanker, Grant, Matthew, de Graaf, Everlien, van der Baan, FH, Ausems, M., Leget, Carlo, Teunissen, Saskia C.C.M., Palliatieve Zorg, Cancer, Onderzoek Medische Oncologie, JC onderzoeksprogramma Kanker, Grant, Matthew, de Graaf, Everlien, van der Baan, FH, Ausems, M., Leget, Carlo, and Teunissen, Saskia C.C.M.
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- 2022
13. Care Needs and Provision in Dutch Hospices: A Retrospective Cross- Sectional Study Focusing on Care Across the Three Different Hospice Types in The Netherlands
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Palliatieve Zorg, Cancer, Onderzoek Medische Oncologie, JC onderzoeksprogramma Kanker, de Graaf, Everlien, Grant, Matthew, van der Baan, FH, Verboeket-Crul, Cathelijne, Ausems, M., Leget, Carlo, Teunissen, Saskia C.C.M., Palliatieve Zorg, Cancer, Onderzoek Medische Oncologie, JC onderzoeksprogramma Kanker, de Graaf, Everlien, Grant, Matthew, van der Baan, FH, Verboeket-Crul, Cathelijne, Ausems, M., Leget, Carlo, and Teunissen, Saskia C.C.M.
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- 2022
14. Mainstream germline genetic testing for patients with epithelial ovarian cancer leads to higher testing rates and a reduction in genetics-related healthcare costs from a healthcare payer perspective
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Genetica Sectie Oncogenetica, Cancer, HEE, Child Health, JC onderzoeksprogramma Methodologie, Genetica, MS Gynaecologische Oncologie, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Bokkers, K, Frederix, G W J, Velthuizen, M E, van der Aa, M, Gerestein, C G, van Dorst, E B L, Lange, J G, Louwers, J A, Koole, W, Zweemer, R P, Ausems, M G E M, Genetica Sectie Oncogenetica, Cancer, HEE, Child Health, JC onderzoeksprogramma Methodologie, Genetica, MS Gynaecologische Oncologie, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Bokkers, K, Frederix, G W J, Velthuizen, M E, van der Aa, M, Gerestein, C G, van Dorst, E B L, Lange, J G, Louwers, J A, Koole, W, Zweemer, R P, and Ausems, M G E M
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- 2022
15. Variaties in de zorg in Nederlandse hospices. In hoeverre volgen hospices de richtlijnen voor palliatieve zorg?
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Graaf, de E., van der Baan, F., Grant, M.P., Verboeket-Crul, C., van Klinken, M., Jobse, A., Ausems, M., Leget, Carlo J. W., Teunissen, S., A meaningful life in a just and caring society, and Care Ethics
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- 2022
16. Intraductal papillary mucinous neoplasms in individuals at high risk of hereditary pancreatic cancer: higher incidence, growth rate, and malignancy risk
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Overbeek, Kasper, Koopmann, B., Levink, I., Tacelli, M., Erler, N., Arcidiacono, P., Ausems, M., Wagner, A., van Eijck, C., Koerkamp, B. Groot, Busch, O., Besselink, M., van der Vlugt, M., van Driel, L., Fockens, P., Vleggaar, F., Poley, J., Capurso, G., Cahen, D., and Bruno, M.
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- 2022
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17. The Impact of Hospice Care Structures on Care Processes: A Retrospective Cohort Study.
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de Graaf E, Grant M, van der Baan F, Ausems M, Leget C, and Teunissen S
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- Humans, Retrospective Studies, Aged, Female, Male, Aged, 80 and over, Netherlands, Middle Aged, Palliative Care organization & administration, Documentation standards, Hospices organization & administration, Patient Care Team organization & administration, Hospice Care organization & administration
- Abstract
Background: Palliative care is subject to substantial variations in care, which may be shaped through adapting the organisational structures through which care is provided. Whilst the goal of these structures is to improve patient care, there is a lack of evidence regarding their effect on care processes and patient outcomes. Aims: This study aims to describe the relationship between care structures and the quantity and domains of care processes in hospice care. Design: Retrospective cohort study. Settings/Participants: Data were collected from Dutch hospice patient's clinical records and hospice surveys, detailing hospice structures, patient clinical characteristics and care processes. Results: 662 patients were included from 42 hospices, mean age 76.1 years. Hospices were categorised according to their care structures - structured clinical documentation and multidisciplinary meetings. Patients receiving care in hospices with structured multidisciplinary meetings had an increased quantity of documented care processes per patient on admission through identification (median 4 vs 3, P < .001), medication (2 vs 1, P = .004) and non-medication (1 vs 0, P < .001) interventions, monitoring (2 vs 1, P < .001) and evaluation (0 vs 0, P = .014), and prior to death. Similar increases were identified for patients who received care in hospices with structured documentation upon admission, but these changes were not consistent prior to death. Conclusions: This study details that the care structures of documentation and multidisciplinary meetings are associated with increased quantity and breadth of documentation of care processes in hospice care. Employing these existing structures may result in improvements in the documentation of patient care processes, and thus better communication around patient care., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2024
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18. Patients' experiences with pre-test genetic counseling provided by breast cancer healthcare professionals: Results from a large prospective multicenter study.
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Bokkers K, Bleiker EMA, Velthuizen ME, Koelemij R, Burgmans JPJ, Klinkenbijl JH, Schouten van der Velden AP, Vermulst N, Huizinga BF, Witkamp AJ, Frakking T, Brohet RM, Aalfs CM, Koole W, Schoenmaeckers EJP, and Ausems MGEM
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- Humans, Female, Prospective Studies, Genetic Testing methods, Delivery of Health Care, Genetic Counseling methods, Genetic Counseling psychology, Breast Neoplasms surgery
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Background: Pre-test genetic counseling of patients with breast cancer is increasingly being offered by non-genetic healthcare professionals. We aimed to evaluate the experiences of patients with breast cancer receiving pre-test genetic counseling from a non-genetic healthcare professional (i.e., surgeon or nurse)., Methods: Patients who were diagnosed with breast cancer and received pre-test counseling from their surgeon or nurse (mainstream group), and patients who received pre-test counseling from a clinical geneticist (usual care group) were invited to participate in our multicenter study. Between September 2019 and December 2021, patients received a questionnaire after pre-test counseling (T0) and four weeks after receiving their test results (T1) to evaluate psychosocial outcomes, knowledge, discussed topics and satisfaction., Results: We included 191 patients in our mainstream and 183 patients in our usual care group and received, respectively 159 and 145 follow-up questionnaires. Levels of distress and decisional regret were comparable in both groups. Decisional conflict was higher in our mainstream group (p = 0.01), but only 7% had clinically relevant decisional conflict (vs 2% in usual care group). The possible implications of a genetic test on (secondary) breast or ovarian cancer risks were less frequently discussed in our mainstream group (p = 0.03 and p = 0.000, respectively). In both groups knowledge about genetics was comparable, satisfaction was high and the majority of patients in both groups preferred to give both verbal and written consent for genetic testing., Conclusion: Mainstreamed genetic care provides sufficient information for the majority of breast cancer patients to decide about genetic testing with minimal distress., Competing Interests: Declarations of competing interest The authors have no conflicts of interest to declare., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)
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- 2023
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19. Genetic Aspects and Molecular Testing in Prostate Cancer: A Report from a Dutch Multidisciplinary Consensus Meeting.
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Mehra N, Kloots I, Vlaming M, Aluwini S, Dewulf E, Oprea-Lager DE, van der Poel H, Stoevelaar H, Yakar D, Bangma CH, Bekers E, van den Bergh R, Bergman AM, van den Berkmortel F, Boudewijns S, Dinjens WNM, Fütterer J, van der Hulle T, Jenster G, Kroeze LI, van Kruchten M, van Leenders G, van Leeuwen PJ, de Leng WWJ, van Moorselaar RJA, Noordzij W, Oldenburg RA, van Oort IM, Oving I, Schalken JA, Schoots IG, Schuuring E, Smeenk RJ, Vanneste BGL, Vegt E, Vis AN, de Vries K, Willemse PM, Wondergem M, and Ausems M
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Background: Germline and tumour genetic testing in prostate cancer (PCa) is becoming more broadly accepted, but testing indications and clinical consequences for carriers in each disease stage are not yet well defined., Objective: To determine the consensus of a Dutch multidisciplinary expert panel on the indication and application of germline and tumour genetic testing in PCa., Design Setting and Participants: The panel consisted of 39 specialists involved in PCa management. We used a modified Delphi method consisting of two voting rounds and a virtual consensus meeting., Outcome Measurements and Statistical Analysis: Consensus was reached if ≥75% of the panellists chose the same option. Appropriateness was assessed by the RAND/UCLA appropriateness method., Results and Limitations: Of the multiple-choice questions, 44% reached consensus. For men without PCa having a relevant family history (familial PCa/ BRCA -related hereditary cancer), follow-up by prostate-specific antigen was considered appropriate. For patients with low-risk localised PCa and a family history of PCa, active surveillance was considered appropriate, except in case of the patient being a BRCA2 germline pathogenic variant carrier. Germline and tumour genetic testing should not be done for nonmetastatic hormone-sensitive PCa in the absence of a relevant family history of cancer. Tumour genetic testing was deemed most appropriate for the identification of actionable variants, with uncertainty for germline testing. For tumour genetic testing in metastatic castration-resistant PCa, consensus was not reached for the timing and panel composition. The principal limitations are as follows: (1) a number of topics discussed lack scientific evidence, and therefore the recommendations are partly opinion based, and (2) there was a small number of experts per discipline., Conclusions: The outcomes of this Dutch consensus meeting may provide further guidance on genetic counselling and molecular testing related to PCa., Patient Summary: A group of Dutch specialists discussed the use of germline and tumour genetic testing in prostate cancer (PCa) patients, indication of these tests (which patients and when), and impact of these tests on the management and treatment of PCa., (© 2022 The Author(s).)
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- 2023
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20. Variations in Clinical Practice: Assessing Clinical Care Processes According to Clinical Guidelines in a National Cohort of Hospice Patients.
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de Graaf E, Grant M, van de Baan F, Ausems M, Verboeket-Crul C, Leget C, and Teunissen S
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- Humans, Retrospective Studies, Palliative Care, Pain, Hospices, Hospice Care, Delirium drug therapy
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Background: National clinical guidelines have been developed internationally to reduce variations in clinical practices and promote the quality of palliative care. In The Netherlands, there is considerable variability in the organisation and care processes of inpatient palliative care, with three types of hospices - Volunteer-Driven Hospices (VDH), Stand-Alone Hospices (SAH), and nursing home Hospice Units (HU). Aim: This study aims to examine clinical practices in palliative care through different hospice types and identify variations in care. Methods: Retrospective cohort study utilising clinical documentation review, including patients who received inpatient palliative care at 51 different hospices and died in 2017 or 2018. Care provision for each patient for the management of pain, delirium and palliative sedation were analysed according to the Dutch national guidelines. Results: 412 patients were included: 112 patients who received treatment for pain, 53 for delirium, and 116 patients underwent palliative sedation therapy. Care was provided in accordance with guidelines for pain in 32%, 61% and 47% (P = .047), delirium in 29%, 78% and 79% (P = .0016), and palliative sedation in 35%, 63% and 42% (P = .067) of patients who received care in VDHs, SAHs and HUs respectively. When all clinical practices were considered, patient care was conducted according to the guidelines for 33% of patients in VDHs, 65% in SAHs, and 50% in HUs (P < .001). Conclusions: The data demonstrate that care practices are not standardised throughout Dutch hospices and exhibit significant variations between type of hospice.
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- 2023
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21. Hospice Care Access: a national cohort study.
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de Graaf E, van der Baan F, Grant MP, Verboeket C, van Klinken M, Jobse A, Ausems M, Leget C, and Teunissen S
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Objectives: Hospice care in the Netherlands is provided in three different types of hospice facilities: volunteer-driven hospices (VDH), stand-alone hospices (SAHs) and hospice unit nursing homes (HU). The organisational structures range from care directed by trained volunteers in VDH to care provided by multiprofessional teams in SAH and HU units.This study aims to characterise the patient populations who access Dutch hospices and describe the patient profiles in different hospice types., Methods: A retrospective cohort study using clinical records of adult hospice inpatients in 2017-2018 from a random national sample of hospices., Results: In total 803 patients were included from 51 hospices, mean age 76.1 (SD 12.4). 78% of patients had a primary diagnosis of cancer, 3% identified as non-Dutch cultural background and 17% were disorientated on admission. At admission, all patients were perceived to have physical needs. Psychological needs were reported in 37%, 36% and 34%, social needs by 53%, 52% and 62%, and existential needs by 23%, 30% and 18% of patients in VDH, SAH, HU units, respectively. 24%, 29% and 27% of patients from VDHs, SAHs and HUs had care needs in three dimensions, and 4%, 6% and 3% in all four dimensions., Conclusions: People who access Dutch hospices predominantly have cancer, and have a range of physical, psychological, social and existential needs, without substantial differences between hospice types. Patients with non-malignant disease and non-Dutch cultural backgrounds are less likely to access hospice care, and future policy would ideally focus on facilitating their involvement., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2022
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22. Mainstream germline genetic testing for patients with epithelial ovarian cancer leads to higher testing rates and a reduction in genetics-related healthcare costs from a healthcare payer perspective.
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Bokkers K, Frederix GWJ, Velthuizen ME, van der Aa M, Gerestein CG, van Dorst EBL, Lange JG, Louwers JA, Koole W, Zweemer RP, and Ausems MGEM
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- Carcinoma, Ovarian Epithelial genetics, Female, Genetic Counseling, Germ Cells, Health Care Costs, Humans, Genetic Testing, Ovarian Neoplasms diagnosis, Ovarian Neoplasms genetics, Ovarian Neoplasms therapy
- Abstract
Objective: Germline genetic testing is increasingly offered to patients with epithelial ovarian cancer by non-genetic healthcare professionals, so called mainstream genetic testing. The aim of this study was to evaluate the effect of implementing a mainstream genetic testing pathway on the percentage of newly diagnosed patients with epithelial ovarian cancer to whom genetic testing was offered and the genetics-related healthcare costs., Methods: The possible care pathways for genetic counseling and testing and their associated costs were mapped. Patient files from all newly diagnosed patients with epithelial ovarian cancer before (March 2016 - September 2017) and after (April 2018 - December 2019) implementing our mainstream genetic testing pathway were analyzed. Based on this analysis, the percentage of newly diagnosed patients to whom genetic testing was offered was assessed and genetics-related healthcare costs were calculated using a healthcare payer perspective based on a Diagnosis-Related Group financing approach., Results: Within six months after diagnosis, genetic testing was offered to 56% of patients before and to 70% of patients after implementation of our mainstream genetic testing pathway (p = 0.005). Genetics-related healthcare costs decreased from €3.511,29 per patient before implementation to €2.418,41 per patient after implementation of our mainstream genetic testing pathway (31% reduction, p = 0.000)., Conclusion: This study shows that mainstream genetic testing leads to a significantly higher proportion of newly diagnosed patients with epithelial ovarian cancer being offered germline genetic testing. In addition, it significantly reduces genetics-related healthcare costs per patient., Competing Interests: Declaration of Competing Interest AstraZeneca sponsored the training module that was developed as part of this project, and was not involved in the development of its content., (Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)
- Published
- 2022
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