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15 results on '"Ausems, M.G.E.M."'

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. European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer

Author

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.

Published
2022
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3. Patients’ experiences with pre-test genetic counseling provided by breast cancer healthcare professionals: Results from a large prospective multicenter study

Author

Bokkers, K., primary, Bleiker, E.M.A., additional, Velthuizen, M.E., additional, Koelemij, R., additional, Burgmans, J.P.J., additional, Klinkenbijl, J.H., additional, Schouten van der Velden, A.P., additional, Vermulst, N., additional, Huizinga, B.F., additional, Witkamp, A.J., additional, Frakking, T., additional, Brohet, R.M., additional, Aalfs, C.M., additional, Koole, W., additional, Schoenmaeckers, E.J.P., additional, and Ausems, M.G.E.M., additional

Published
2023
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4. Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.

Author

Kast, K., John, E.M., Hopper, J.L., Andrieu, N., Noguès, C., Mouret-Fourme, E., Lasset, C., Fricker, J.P., Berthet, Pascaline, Mari, V., Salle, L., Schmidt, M.K., Ausems, M.G.E.M., Garcia, E.B.G., Beek, I. van de, Wevers, M.R., Evans, D.G., Tischkowitz, M., Lalloo, F., Cook, J., Izatt, L., Tripathi, V., Snape, K., Musgrave, H., Sharif, S., Murray, J., Colonna, S.V., Andrulis, I.L., Daly, M.B., Southey, M.C., Hoya, M. de la, Osorio, A., Foretova, L., Berkova, D., Gerdes, A.M., Olah, E., Jakubowska, A., Singer, C.F., Tan, Yen, Augustinsson, A., Rantala, J., Simard, J., Schmutzler, R.K., Milne, R.L., Phillips, K.A., Terry, M.B., Goldgar, D., Leeuwen, F.E. van, Mooij, T.M., Antoniou, A.C., Easton, D.F., Rookus, M.A., Engel, C., Kast, K., John, E.M., Hopper, J.L., Andrieu, N., Noguès, C., Mouret-Fourme, E., Lasset, C., Fricker, J.P., Berthet, Pascaline, Mari, V., Salle, L., Schmidt, M.K., Ausems, M.G.E.M., Garcia, E.B.G., Beek, I. van de, Wevers, M.R., Evans, D.G., Tischkowitz, M., Lalloo, F., Cook, J., Izatt, L., Tripathi, V., Snape, K., Musgrave, H., Sharif, S., Murray, J., Colonna, S.V., Andrulis, I.L., Daly, M.B., Southey, M.C., Hoya, M. de la, Osorio, A., Foretova, L., Berkova, D., Gerdes, A.M., Olah, E., Jakubowska, A., Singer, C.F., Tan, Yen, Augustinsson, A., Rantala, J., Simard, J., Schmutzler, R.K., Milne, R.L., Phillips, K.A., Terry, M.B., Goldgar, D., Leeuwen, F.E. van, Mooij, T.M., Antoniou, A.C., Easton, D.F., Rookus, M.A., and Engel, C.

Abstract

Item does not contain fulltext, INTRODUCTION: Height, body mass index (BMI), and weight gain are associated with breast cancer risk in the general population. It is unclear whether these associations also exist for carriers of pathogenic variants in the BRCA1 or BRCA2 genes. PATIENTS AND METHODS: An international pooled cohort of 8091 BRCA1/2 variant carriers was used for retrospective and prospective analyses separately for premenopausal and postmenopausal women. Cox regression was used to estimate breast cancer risk associations with height, BMI, and weight change. RESULTS: In the retrospective analysis, taller height was associated with risk of premenopausal breast cancer for BRCA2 variant carriers (HR 1.20 per 10 cm increase, 95% CI 1.04-1.38). Higher young-adult BMI was associated with lower premenopausal breast cancer risk for both BRCA1 (HR 0.75 per 5 kg/m(2), 95% CI 0.66-0.84) and BRCA2 (HR 0.76, 95% CI 0.65-0.89) variant carriers in the retrospective analysis, with consistent, though not statistically significant, findings from the prospective analysis. In the prospective analysis, higher BMI and adult weight gain were associated with higher postmenopausal breast cancer risk for BRCA1 carriers (HR 1.20 per 5 kg/m(2), 95% CI 1.02-1.42; and HR 1.10 per 5 kg weight gain, 95% CI 1.01-1.19, respectively). CONCLUSION: Anthropometric measures are associated with breast cancer risk for BRCA1 and BRCA2 variant carriers, with relative risk estimates that are generally consistent with those for women from the general population.

Published
2023

6. Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases

Author

Lakeman, I.M.M., Rodríguez-Girondo, M.D.M., Lee, A, Celosse, N., Braspenning, M.E., Engelen, K. van, Beek, I. van de, Hout, A.H. van der, Gómez García, E., Mensenkamp, A.R., Ausems, M.G.E.M., Hooning, M.J., Adank, M.A., Hollestelle, A., Schmidt, M.K., Asperen, C.J. van, Devilee, P., Lakeman, I.M.M., Rodríguez-Girondo, M.D.M., Lee, A, Celosse, N., Braspenning, M.E., Engelen, K. van, Beek, I. van de, Hout, A.H. van der, Gómez García, E., Mensenkamp, A.R., Ausems, M.G.E.M., Hooning, M.J., Adank, M.A., Hollestelle, A., Schmidt, M.K., Asperen, C.J. van, and Devilee, P.

Abstract

Item does not contain fulltext, BACKGROUND: Common low-risk variants are presently not used to guide clinical management of familial breast cancer (BC). We explored the additive impact of a 313-variant-based Polygenic Risk Score (PRS(313)) relative to standard gene testing in non-BRCA1/2 Dutch BC families. METHODS: We included 3918 BC cases from 3492 Dutch non-BRCA1/2 BC families and 3474 Dutch population controls. The association of the standardised PRS(313) with BC was estimated using a logistic regression model, adjusted for pedigree-based family history. Family history of the controls was imputed for this analysis. SEs were corrected to account for relatedness of individuals. Using the BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) V.5 model, lifetime risks were retrospectively calculated with and without individual PRS(313). For 2586 cases and 2584 controls, the carrier status of pathogenic variants (PVs) in ATM, CHEK2 and PALB2 was known. RESULTS: The family history-adjusted PRS(313) was significantly associated with BC (per SD OR=1.97, 95% CI 1.84 to 2.11). Including the PRS(313) in BOADICEA family-based risk prediction would have changed screening recommendations in up to 27%, 36% and 34% of cases according to BC screening guidelines from the USA, UK and the Netherlands (National Comprehensive Cancer Network, National Institute for Health and Care Excellence, and Netherlands Comprehensive Cancer Organisation), respectively. For the population controls, without information on family history, this was up to 39%, 44% and 58%, respectively. Among carriers of PVs in known moderate BC susceptibility genes, the PRS(313) had the largest impact for CHEK2 and ATM. CONCLUSIONS: Our results support the application of the PRS(313) in risk prediction for genetically uninformative BC families and families with a PV in moderate BC risk genes.

Published
2023

7. Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers

Author

Akdeniz, D., Barele, M. van, Heemskerk-Gerritsen, B.A.M., Steyerberg, E.W., Hauptmann, M., Beek, I. van de, Engelen, K. van, Wevers, M.R., Garcia, E.B.G., Ausems, M.G.E.M., Berger, L.P.V., Asperen, C.J. van, Adank, M.A., Collee, M.J., Stommel-Jenner, D.J., Jager, A., Schmidt, M.K., Hooning, M.J., HEBON Investigators, Medical Oncology, Public Health, Clinical Genetics, Faculteit Medische Wetenschappen/UMCG, Clinical genetics, Epidemiology and Data Science, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), and Klinische Genetica

Subjects
PALGA, The nationwide network and registry of histo- and cytopathology in The Netherlands, Heterozygote, Secondary, endocrine system diseases, Breast Neoplasms, MUTATION CARRIERS, HEBON, Hereditary Breast and Ovarian cancer research Netherlands, Cohort Studies, NEOADJUVANT CHEMOTHERAPY, All institutes and research themes of the Radboud University Medical Center, Breast cancer, PROGNOSTIC-FACTORS, SDG 3 - Good Health and Well-being, Humans, Chemotherapy, Genetic Predisposition to Disease, skin and connective tissue diseases, RC254-282, BRCA2 Protein, PBC, primary breast cancer, BRCA1 Protein, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, General Medicine, BRCA1, HR, hazard ratio, BRCA2, CI, confidence interval, GRADE, Risk factors, Chemotherapy, Adjuvant, Mutation, SURVIVAL, Surgery, Original Article, CBC, contralateral breast cancer, Female, CMF, cyclophosphamide, methotrexate, 5-fluorouracil, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], NCR, Netherlands Cancer Registry
Abstract

Aim BRCA1/2 mutation carriers with primary breast cancer (PBC) are at high risk of contralateral breast cancer (CBC). In a nationwide cohort, we investigated the effects of chemotherapeutic agents given for PBC on CBC risk separately in BRCA1 and BRCA2 mutation carriers. Patients and methods BRCA1 or BRCA2 mutation carriers with an invasive PBC diagnosis from 1990 to 2017 were selected from a Dutch cohort. We estimated cumulative CBC incidence using competing risks analysis. Hazard ratios (HR) for the effect of neo-adjuvant or adjuvant chemotherapy and different chemotherapeutic agents on CBC risk were estimated using Cox regression. Results We included 1090 BRCA1 and 568 BRCA2 mutation carriers; median follow-up was 8.9 and 8.4 years, respectively. Ten-year cumulative CBC incidence for treatment with and without chemotherapy was 6.7% [95%CI: 5.1–8.6] and 16.7% [95%CI: 10.8–23.7] in BRCA1 and 4.8% [95%CI: 2.7–7.8] and 16.0% [95%CI: 9.3–24.4] in BRCA2 mutation carriers, respectively. Chemotherapy was associated with reduced CBC risk in BRCA1 (multivariable HR: 0.46, 95%CI: 0.29–0.74); a similar trend was observed in BRCA2 mutation carriers (HR: 0.63, 95%CI: 0.29–1.39). In BRCA1, risk reduction was most pronounced in the first 5 years (HR: 0.32, 95%CI: 0.17–0.61). Anthracyclines and the combination of anthracyclines with taxanes were associated with substantial CBC risk reduction in BRCA1 carriers (HR: 0.34, 95%CI: 0.17–0.68 and HR: 0.22, 95%CI: 0.08–0.62, respectively). Conclusion Risk-reducing effects of chemotherapy are substantial for at least 5 years and may be used in personalised CBC risk prediction in any case for BRCA1 mutation carriers., Highlights • Contralateral breast cancer (CBC) risk is high in BRCA1/2 mutation carriers. • Chemotherapy for primary breast cancer results in decreased CBC risk in BRCA1. • Anthracyclines with/without taxanes show the largest CBC risk reduction in BRCA1. • For BRCA2 similar trends are observed as in BRCA1 mutation carriers. • Chemotherapy must be considered in personalised CBC risk models.

Published
2022

8. Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study

Author

Barele, M. van, Rieborn, A., Heemskerk-Gerritsen, B.A.M., Obdeijn, I.M., Koppert, L.B., Loo, C.E., Tollenaar, R.A.E.M., Ausems, M.G.E.M., Beek, I. van de, Berger, L.P.V., Boer, M. de, Hest, L.P. van, Kets, C.M., Rookus, M., Hebon, Schmidt, M.K., Jager, A., Hooning, M.J., Interne Geneeskunde, MUMC+: MA Medische Oncologie (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Medical Oncology, Radiology & Nuclear Medicine, Surgery, Human genetics, Cancer Center Amsterdam, and CCA - Cancer Treatment and quality of life

Subjects
Cancer Research, PREDICTOR, Survival, Breast Neoplasms, Cohort Studies, Breast cancer, SDG 3 - Good Health and Well-being, STAGE, BRCA2 MUTATION CARRIERS, MANAGEMENT, Humans, Breast, BRCA2 Protein, OUTCOMES, BRCA1 Protein, LYMPH-NODE METASTASIS, WOMEN, Tumor size, Prognosis, BRCA1, BRCA2, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Oncology, Mutation, Female, SUBTYPE
Abstract

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.

Published
2022

9. 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

Author

Bokkers, K., primary, Frederix, G.W.J., additional, Velthuizen, M.E., additional, van der Aa, M., additional, Gerestein, C.G., additional, van Dorst, E.B.L., additional, Lange, J.G., additional, Louwers, J.A., additional, Koole, W., additional, Zweemer, R.P., additional, and Ausems, M.G.E.M., additional

Published
2022
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10. The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care-A Systematic Review

Author

Bokkers, K., Vlaming, M., Engelhardt, E.G., Zweemer, R.P., Oort, I.M. van, Kiemeney, L.A.L.M., Bleiker, E.M.A., Ausems, M.G.E.M., Bokkers, K., Vlaming, M., Engelhardt, E.G., Zweemer, R.P., Oort, I.M. van, Kiemeney, L.A.L.M., Bleiker, E.M.A., and Ausems, M.G.E.M.

Abstract

Contains fulltext : 248306.pdf (Publisher’s version ) (Open Access), BACKGROUND: Non-genetic healthcare professionals can provide pre-test counseling and order germline genetic tests themselves, which is called mainstream genetic testing. In this systematic review, we determined whether mainstream genetic testing was feasible in daily practice while maintaining quality of genetic care. METHODS: PubMed, Embase, CINAHL, and PsychINFO were searched for articles describing mainstream genetic testing initiatives in cancer care. RESULTS: Seventeen articles, reporting on 15 studies, met the inclusion criteria. Non-genetic healthcare professionals concluded that mainstream genetic testing was possible within the timeframe of a routine consultation. In 14 studies, non-genetic healthcare professionals completed some form of training about genetics. When referral was coordinated by a genetics team, the majority of patients carrying a pathogenic variant were seen for post-test counseling by genetic healthcare professionals. The number of days between cancer diagnosis and test result disclosure was always lower in the mainstream genetic testing pathway than in the standard genetic testing pathway (e.g., pre-test counseling at genetics department). CONCLUSIONS: Mainstream genetic testing seems feasible in daily practice with no insurmountable barriers. A structured pathway with a training procedure is desirable, as well as a close collaboration between genetics and other clinical departments.

Published
2022

11. Mainstream germline genetic testing in men with metastatic prostate cancer: design and protocol for a multicenter observational study

Author

Vlaming, M., Bleiker, E.M., Oort, I.M. van, Kiemeney, L.A.L.M., Ausems, M.G.E.M., Vlaming, M., Bleiker, E.M., Oort, I.M. van, Kiemeney, L.A.L.M., and Ausems, M.G.E.M.

Abstract

Contains fulltext : 287587.pdf (Publisher’s version ) (Open Access), BACKGROUND: In international guidelines, germline genetic testing is recommended for patients with metastatic prostate cancer. Before undergoing germline genetic testing, these patients should receive pre-test counseling. In the standard genetic care pathway, pre-test counseling is provided by a healthcare professional of a genetics department. Because the number of patients with metastatic prostate cancer is large, the capacity in the genetics departments might be insufficient. Therefore, we aim to implement so-called mainstream genetic testing in the Netherlands for patients with metastatic prostate cancer. In a mainstream genetic testing pathway, non-genetic healthcare professionals discuss and order germline genetic testing. In our DISCOVER study, we will assess the experiences among patients and non-genetic healthcare professionals with this new pathway. METHODS: A multicenter prospective observational cohort study will be conducted in 15 hospitals, in different regions of the Netherlands. We developed an online training module on genetics in prostate cancer and the counseling of patients. After completion of this module, non-genetic healthcare professionals will provide pre-test counseling and order germline genetic testing in metastatic prostate cancer patients. Both non-genetic healthcare professionals and patients receive three questionnaires. We will determine the experience with mainstream genetic testing, based on satisfaction and acceptability. Patients with a pathogenic germline variant will also be interviewed. We will determine the efficacy of the mainstreaming pathway, based on time investment for non-genetic healthcare professionals and the prevalence of pathogenic germline variants. DISCUSSION: This study is intended to be one of the largest studies on mainstream genetic testing in prostate cancer. The results of this study can improve the mainstream genetic testing pathway in patients with prostate cancer. TRIAL REGISTRATION: The study is registe

Published
2022

12. Timeline of Development of Pancreatic Cancer and Implications for Successful Early Detection in High-Risk Individuals

Author

Overbeek, K.A., Goggins, M.G., Dbouk, M., Levink, I.J.M., Koopmann, B.D.M., Chuidian, M., Konings, I.C.A.W., Paiella, S., Earl, J., Fockens, P., Gress, T.M., Ausems, M.G.E.M., Poley, J.W., Thosani, N.C., Half, E., Lachter, J., Stoffel, E.M., Kwon, R.S., Stoita, A., Kastrinos, F., Lucas, A.L., Syngal, S., Brand, R.E., Chak, A., Carrato, A., Vleggaar, F.P., Bartsch, D.K., Hooft, J.E. van, Cahen, D.L., Canto, M.I., Bruno, M.J., Int Canc Pancreas Screening Consor, Gastroenterology and hepatology, Gastroenterology and Hepatology, CCA - Cancer Treatment and Quality of Life, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, and Gastroenterology & Hepatology

Subjects
medicine.medical_specialty, Surveillance, Hepatology, Intraductal papillary mucinous neoplasm, medicine.diagnostic_test, business.industry, Familial Pancreatic Cancer, Gastroenterology, Pancreatic Intraepithelial Neoplasia, medicine.disease, Lesion, Pancreatic Cancer, medicine.anatomical_structure, Fine-needle aspiration, SDG 3 - Good Health and Well-being, Dysplasia, Interquartile range, Pancreatic cancer, medicine, Screening, Radiology, medicine.symptom, Pancreas, business
Abstract

Background & Aims: To successfully implement imaging-based pancreatic cancer (PC) surveillance, understanding the timeline and morphologic features of neoplastic progression is key. We aimed to investigate the progression to neoplasia from serial prediagnostic pancreatic imaging tests in high-risk individuals and identify factors associated with successful early detection. Methods: We retrospectively examined the development of pancreatic abnormalities in high-risk individuals who were diagnosed with PC or underwent pancreatic surgery, or both, in 16 international surveillance programs. Results: Of 2552 high-risk individuals under surveillance, 28 (1%) developed neoplastic progression to PC or high-grade dysplasia during a median follow-up of 29 months after baseline (interquartile range [IQR], 40 months). Of these, 13 of 28 (46%) presented with a new lesion (median size, 15 mm; range 7–57 mm), a median of 11 months (IQR, 8; range 3–17 months) after a prior examination, by which time 10 of 13 (77%) had progressed beyond the pancreas. The remaining 15 of 28 (54%) had neoplastic progression in a previously detected lesion (12 originally cystic, 2 indeterminate, 1 solid), and 11 (73%) had PC progressed beyond the pancreas. The 12 patients with cysts had been monitored for 21 months (IQR, 15 months) and had a median growth of 5 mm/y (IQR, 8 mm/y). Successful early detection (as high-grade dysplasia or PC confined to the pancreas) was associated with resection of cystic lesions (vs solid or indeterminate lesions (odds ratio, 5.388; 95% confidence interval, 1.525–19.029) and small lesions (odds ratio, 0.890/mm; 95% confidence interval 0.812–0.976/mm). Conclusions: In nearly half of high-risk individuals developing high-grade dysplasia or PC, no prior lesions are detected by imaging, yet they present at an advanced stage. Progression can occur before the next scheduled annual examination. More sensitive diagnostic tools or a different management strategy for rapidly growing cysts are needed.

Published
2022

13. 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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14. Integrating germline genetic testing into routine care of patients with breast or ovarian cancer: Acceptability and feasibility of implementing mainstream genetic testing pathways

Author

Bokkers, Kyra, Ausems, M.G.E.M., and Zweemer, R.P.

Subjects
Mainstream genetic testing, breast cancer, ovarian cancer, patients’ experiences, healthcare professionals’ experiences, uptake of genetic testing, healthcare costs
Abstract

It is important to identify patients with breast or ovarian cancer who carry a hereditary predisposition for cancer. Identifying such a hereditary predisposition may impact treatment and surveillance options to prevent or identify a second cancer in an early stage. In addition, family members may also be eligible for surveillance options if they carry the same hereditary predisposition. Despite these important implications, not all patients with breast or ovarian cancer who are eligible for genetic testing are referred to a genetics department for counseling and testing. Therefore, we aimed to make genetic testing more accessible to patients with breast or ovarian cancer. This thesis describes the development, implementation and evaluation of mainstream genetic testing. In these mainstream genetic testing pathways, non-genetic healthcare professionals (i.e., doctors and nurses who are already treating the patient) discuss the advantages and disadvantages of genetic testing and order genetic testing themselves for their patients after completing a concise online training. The results show that non-genetic healthcare professionals in both breast and ovarian cancer care have predominantly positive attitudes toward mainstream genetic testing and it is feasible for them to incorporate genetic testing into their routine care. Patients feel well-informed after counseling about genetic testing and mainstream genetic testing provides good quality of care. For patients with ovarian cancer, mainstream genetic testing led to higher testing rates and a reduction in genetics-related healthcare costs. Based on these results, we can conclude that mainstream genetic testing for patients with breast or ovarian cancer is acceptable and feasible for both healthcare professionals and patients to incorporate into routine care.

Published
2023

15. European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer

Author

I. Vergote, A. González-Martín, I. Ray-Coquard, P. Harter, N. Colombo, P. Pujol, D. Lorusso, M.R. Mirza, B. Brasiuniene, R. Madry, J.D. Brenton, M.G.E.M. Ausems, R. Büttner, D. Lambrechts, M. Ausems, J. Brenton, M. Abreu, S. Balboni, S. Banerjee, M. Barberis, M.P. Barretina Ginesta, J.-F. Baurain, M. Bignami, L. Bjorge, P. Blecharz, I. Bruchim, M. Capilna, N. Cerana, A. Cicchetti, D. Collins, N. Concin, M. D’Incalci, B. Davidson, T. de la Motte Rouge, P. De Iaco, F. Demirkiran, H. Denys, T. Doerk, A. Dorum, A. Ferrero, A.P. Fidalgo, M. Genuardi, L. Gladieff, R. Glasspool, C. Grimm, M. Gultekin, E. Hahnen, A. Hasenburg, A. Hegmane, V. Heinzelmann, E. Hogdall, R. Janavicius, S. Jarmalaite, R. Kalachand, R. Kaneva, S. Kilickap, R. Kocian, D. Kolencik, R. Kristeleit, A. Kryzhanivska, A. Leary, B. Lemley, M. Ligtenberg, J.A. López-Guerrero, C.J. Lord, E. Avall-Lundqvist, J. Maenpaa, S. Mahner, F. Marmé, C. Marth, I. McNeish, S. Merkelbach-Bruse, M. Mourits, N. Normanno, A. Oaknin, K. Ojamaa, C. Papdimitriou, F. Penault-Llorca, A.M. Perrone, S. Pignata, E. Pikarsky, E. Rouleau, M. Rubio, A. Sapino, B. Schmalfeldt, J. Sehouli, R. Shapira, K.D. Steffensen, V. Sukhin, J. Syrios, Z. Szallasi, C. Taskiran, M. Terzic, M. Tischkowitz, I. Toth, K. Van de Vijver, M.A. Vardar, B. Wasag, P. Wimberger, E. Witteveen, 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, and Witteveen, E

Subjects
Oncology, medicine.medical_specialty, MAINTENANCE THERAPY, CARCINOMA, Genetic counseling, BRCA, Delphi method, Carcinoma, Ovarian Epithelial, Poly(ADP-ribose) Polymerase Inhibitors, Gene mutation, Settore MED/03 - GENETICA MEDICA, BREAST, DOUBLE-BLIND, BRCA1/2, Internal medicine, Genetic predisposition, Medicine and Health Sciences, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Medicine, Humans, BRCA2 MUTATIONS, OLAPARIB PLUS BEVACIZUMAB, Genetic testing, Ovarian Neoplasms, Ovarian Neoplasms/diagnosis, medicine.diagnostic_test, business.industry, MISMATCH REPAIR DEFICIENCY, PARP inhibition, mainstream genetic testing, Recombinational DNA Repair, Hematology, SOMATIC MUTATIONS, GERMLINE MUTATIONS, Poly(ADP-ribose) Polymerase Inhibitors/pharmacology, medicine.disease, FALLOPIAN-TUBE, Carcinoma, Ovarian Epithelial/genetics, ovarian cancer, homologous recombination deficiency, DNA mismatch repair, Female, business, Homologous recombination, Ovarian cancer, human activities, genetic counselling
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 deficiency testing for recently diagnosed patients with advanced ovarian cancer. ispartof: ANNALS OF ONCOLOGY vol:33 issue:3 pages:276-287 ispartof: location:England status: published

Published
2022

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