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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. Klinisch-genetische aspecten van kanker

Author

Hoogerbrugge, N., Ligtenberg, M. J. L., Oosterwijk, J. C., Ausems, M. G. E. M., Nielsen, M., van Krieken, J.H.J.M., editor, Beets-Tan, R.G.H., editor, Gelderblom, A.J., editor, Olofsen, M.J.J., editor, and Rutten, H.J.T., editor

Published
2020
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5. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

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

Abstract

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

Published
2024

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

Author

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

Published
2022

10. Variations in Clinical Practice: Assessing Clinical Care Processes According to Clinical Guidelines in a National Cohort of Hospice Patients

Author

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.

Published
2023

11. Genetic Aspects and Molecular Testing in Prostate Cancer: A Report from a Dutch Multidisciplinary Consensus Meeting

Author

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.

Published
2023

12. Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling

Author

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.

Published
2023

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

Author

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.

Published
2023

16. The Utrecht cohort for Multiple BREast cancer intervention studies and Long-term evaLuAtion (UMBRELLA): objectives, design, and baseline results

Author

Young-Afat, D. A., van Gils, C. H., van den Bongard, H. J. G. D., Verkooijen, H. M., Gernaat, S. A., Gregorowitsch, M. L., May, A. M., Peeters, P. H., van der Pol, C. C., Witkamp, A. J., Pijnappel, R. M., Bijlsma, R. M., Maarse, W., Ausems, M. G., van Diest, P. J., van der Wall, E., van Dalen, T., Burgmans, I. P., de Roos, M. A., van Doorn, R. C., Baas, I. O., van Ooijen, B., Koelemij, R., and on behalf of the UMBRELLA Study Group

Published
2017
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19. Smoking among Dutch Elementary Schoolchildren: Gender-Specific Predictors

Author

Ausems, M., Mesters, I., van Breukelen, G., and De Vries, H.

Abstract

Higher rates of smoking initiation and continuation by female compared with male adolescents, as found in many developed countries, may call for gender-specific prevention programs. Risk factors of smoking initiation and continuation were examined prospectively (1997-2002) among 3205 Dutch elementary schoolchildren (mean age 11.64) in an intervention trial using written questionnaires and multilevel logistic regression. At baseline, smoking prevalence was lower among girls than among boys; at follow-up, smoking initiation was lower among girls than among boys. Concerning smoking initiation, girls and boys shared the following risk factors: age, modeling from parents and siblings ("modeling nuclear"), modeling from other members in the social circle ("modeling diffuse") and perceived pro-tobacco pressure to smoke. The only gender-specific predictor of smoking initiation was parent origin; girls with non-Dutch parents could be targeted for prevention programs. Concerning continuation, girls and boys shared the following risk factors: older age, more modeling nuclear and diffuse, fewer smoking disadvantages and lower self-efficacy to refrain from smoking. This study confirms that social modeling, smoking attitude and self-efficacy information to refrain from smoking deserve a prominent place in smoking prevention programs for schoolchildren. Besides booster sessions, family-directed programs are suggested. No gender-specific predictors of later smoking initiation were found, apart from parent origin, which is not amenable to intervention.

Published
2009
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21. Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis

Author

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.

Published
2022

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

Author

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.

Published
2022

23. Variations in Clinical Practices in Dutch Hospice Care

Author

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.

Published
2022

24. Care Needs and Provision in Dutch Hospices: A Retrospective Cross- Sectional Study Focusing on Care Across the Three Different Hospice Types in The Netherlands

Author

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.

Published
2022

25. 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

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

Published
2022

35. Development of a plain-language guide for discussing breast cancer genetic counseling and testing with patients with limited health literacy

Author

Giessen, J.A.M. van der, Ausems, M., Riel, E. van, Jong, A. de, Fransen, M.P., Dulmen, S. van, Giessen, J.A.M. van der, Ausems, M., Riel, E. van, Jong, A. de, Fransen, M.P., and Dulmen, S. van

Abstract

Item does not contain fulltext, PURPOSE: Due to limited health literacy and resulting ineffective communication between healthcare professionals and patients, not all eligible patients are offered breast cancer genetic counseling and testing. We aimed to develop a plain-language guide to increase effective communication about genetic counseling and testing with breast cancer patients with limited health literacy. METHODS: Together with oncological healthcare professionals, we drafted a list of jargon words frequently used during (breast) cancer genetic counseling. In a focus group interview with breast cancer counselees with limited health literacy, who had received genetic counseling before, we reformulated these words in plain language. Low-literate individuals, who are not familiar with breast cancer care or genetic counseling, reflected on the draft of the guide. Completeness, acceptability, and perceived usability were tested in an online questionnaire among healthcare professionals. RESULTS: The result is a plain-language guide for genetic counseling and testing with 33 frequently used jargon words and a reformulation of these words in plain language. Acceptability and perceived usefulness of the guide among healthcare professionals (n = 58) were high. CONCLUSION: The plain-language guide provides opportunities to facilitate communication about genetic counseling and testing with patients with limited health literacy and could enhance opportunities for patients to make informed decisions to participate in genetic testing. As the intention from healthcare professionals to use the plain-language guide is high, implementation of the guide in a real-life setting seems promising.

Published
2021

36. Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study

Author

Jonge, M.M. de, Kroon, C.D. de, Jenner, D.J., Oosting, J., Hullu, J.A. de, Mourits, M.J.E., Garcia, E.B., Ausems, M., Collée, J. Margriet, Engelen, K. van, Beek, I. van de, Smit, V., Rookus, Matti A., Bock, G.H. de, Leeuwen, F.E. van, Bosse, T., Dekkers, O.M., Asperen, C.J. van, Jonge, M.M. de, Kroon, C.D. de, Jenner, D.J., Oosting, J., Hullu, J.A. de, Mourits, M.J.E., Garcia, E.B., Ausems, M., Collée, J. Margriet, Engelen, K. van, Beek, I. van de, Smit, V., Rookus, Matti A., Bock, G.H. de, Leeuwen, F.E. van, Bosse, T., Dekkers, O.M., and Asperen, C.J. van

Abstract

Contains fulltext : 238893.pdf (Publisher’s version ) (Open Access), BACKGROUND: Endometrial cancer (EC) risk in BReast CAncer gene 1/2 (BRCA1/2) mutation carriers is uncertain; therefore, we assessed this in a large Dutch nationwide cohort study. METHODS: We selected 5980 BRCA1/2 (3788 BRCA1, 2151 gBRCA2, 41 both BRCA1/BRCA2) and 8451 non-BRCA1/2 mutation carriers from the Hereditary Breast and Ovarian cancer study, the Netherlands cohort. Follow-up started at the date of the nationwide Dutch Pathology Registry coverage (January 1, 1989) or at the age of 25 years (whichever came last) and ended at date of EC diagnosis, last follow-up, or death (whichever came first). EC risk in BRCA1/2 mutation carriers was compared with 1) the general population, estimating standardized incidence ratios (SIRs) based on Dutch population-based incidence rates; and 2) non-BRCA1/2 mutation carriers, using Cox-regression analyses, expressed as hazard ratio (HR). Statistical tests were 2-sided. RESULTS: Fifty-eight BRCA1/2 and 33 non-BRCA1/2 mutation carriers developed EC over 119 296 and 160 841 person-years, respectively (SIR = 2.83, 95% confidence interval [CI] = 2.18 to 3.65; and HR = 2.37, 95% CI = 1.53 to 3.69, respectively). gBRCA1 mutation carriers showed increased risks for EC overall (SIR = 3.51, 95% CI = 2.61 to 4.72; HR = 2.91, 95% CI = 1.83 to 4.66), serous-like EC (SIR = 12.64, 95% CI = 7.62 to 20.96; HR = 10.48, 95% CI = 2.95 to 37.20), endometrioid EC (SIR = 2.63, 95% CI = 1.80 to 3.83; HR = 2.01, 95% CI = 1.18 to 3.45), and TP53-mutated EC (HR = 15.71, 95% CI = 4.62 to 53.40). For BRCA2 mutation carriers, overall (SIR = 1.70, 95% CI = 1.01 to 2.87) and serous-like EC risks (SIR = 5.11, 95% CI = 1.92 to 13.63) were increased compared with the general population. Absolute risks by 75 years remained low (overall EC = 3.0%; serous-like EC = 1.1%). CONCLUSIONS: BRCA1/2 mutation carriers have a two- to threefold increased risk for EC, with highest risk observed for the rare subgroups of serous-like and p53-abnormal EC in BRCA1 mutation carrier

Published
2021

37. Long-Term Morbidity and Health After Early Menopause Due to Oophorectomy in Women at Increased Risk of Ovarian Cancer: Protocol for a Nationwide Cross-Sectional Study With Prospective Follow-Up (HARMOny Study)

Author

Terra, L., Hooning, M.J., Heemskerk-Gerritsen, B.A., Beurden, M. van, Lennep, J.E.Roeters van, Doorn, H.C. van, de Hullu, J.A., Mom, C., Dorst, E.B.L. van, Mourits, M.J.E., Slangen, B.F.M., Gaarenstroom, K.N., Zillikens, M.C., Leiner, T., Kolk, L. van der, Collee, M., Wevers, M.R., Ausems, M., Engelen, K. van, Berger, L.P.V., Asperen, C.J. van, Gomez-Garcia, E.B., Beek, I. van de, Rookus, Matti A., Hauptmann, M., Bleiker, E.M.A., Schagen, S.B., Aaronson, N.K., Maas, A.H.E.M., Leeuwen, F.E. van, Terra, L., Hooning, M.J., Heemskerk-Gerritsen, B.A., Beurden, M. van, Lennep, J.E.Roeters van, Doorn, H.C. van, de Hullu, J.A., Mom, C., Dorst, E.B.L. van, Mourits, M.J.E., Slangen, B.F.M., Gaarenstroom, K.N., Zillikens, M.C., Leiner, T., Kolk, L. van der, Collee, M., Wevers, M.R., Ausems, M., Engelen, K. van, Berger, L.P.V., Asperen, C.J. van, Gomez-Garcia, E.B., Beek, I. van de, Rookus, Matti A., Hauptmann, M., Bleiker, E.M.A., Schagen, S.B., Aaronson, N.K., Maas, A.H.E.M., and Leeuwen, F.E. van

Abstract

Contains fulltext : 232463.pdf (Publisher’s version ) (Open Access), BACKGROUND: BRCA1/2 mutation carriers are recommended to undergo risk-reducing salpingo-oophorectomy (RRSO) at 35 to 45 years of age. RRSO substantially decreases ovarian cancer risk, but at the cost of immediate menopause. Knowledge about the potential adverse effects of premenopausal RRSO, such as increased risk of cardiovascular disease, osteoporosis, cognitive dysfunction, and reduced health-related quality of life (HRQoL), is limited. OBJECTIVE: The aim of this study is to assess the long-term health effects of premenopausal RRSO on cardiovascular disease, bone health, cognitive functioning, urological complaints, sexual functioning, and HRQoL in women with high familial risk of breast or ovarian cancer. METHODS: We will conduct a multicenter cross-sectional study with prospective follow-up, nested in a nationwide cohort of women at high familial risk of breast or ovarian cancer. A total of 500 women who have undergone RRSO before 45 years of age, with a follow-up period of at least 10 years, will be compared with 250 women (frequency matched on current age) who have not undergone RRSO or who have undergone RRSO at over 55 years of age. Participants will complete an online questionnaire on lifestyle, medical history, cardiovascular risk factors, osteoporosis, cognitive function, urological complaints, and HRQoL. A full cardiovascular assessment and assessment of bone mineral density will be performed. Blood samples will be obtained for marker analysis. Cognitive functioning will be assessed objectively with an online neuropsychological test battery. RESULTS: This study was approved by the institutional review board in July 2018. In February 2019, we included our first participant. As of November 2020, we had enrolled 364 participants in our study. CONCLUSIONS: Knowledge from this study will contribute to counseling women with a high familial risk of breast/ovarian cancer about the long-term health effects of premenopausal RRSO. The results can also be used to o

Published
2021

38. Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making

Author

Reumkens, K., Tummers, M.H.E., Severijns, Y., Gietel-Habets, J.J.G., Kuijk, S.M.J. Van, Aalfs, C.M., Asperen, C.J. van, Ausems, M., Collée, M., Dommering, C.J., Kets, M., Kolk, L.E. van der, Oosterwijk, Jan, Tjan-Heijnen, V.C.G., Weijden, T. van der, Die-Smulders, C.E.M. de, Osch, L. van, Reumkens, K., Tummers, M.H.E., Severijns, Y., Gietel-Habets, J.J.G., Kuijk, S.M.J. Van, Aalfs, C.M., Asperen, C.J. van, Ausems, M., Collée, M., Dommering, C.J., Kets, M., Kolk, L.E. van der, Oosterwijk, Jan, Tjan-Heijnen, V.C.G., Weijden, T. van der, Die-Smulders, C.E.M. de, and Osch, L. van

Abstract

Contains fulltext : 231700.pdf (Publisher’s version ) (Open Access), Individuals having a genetic predisposition to cancer and their partners face challenging decisions regarding their wish to have children. This study aimed to determine the effects of an online decision aid to support couples in making an informed decision regarding their reproductive options. A nationwide pretest-posttest study was conducted in the Netherlands among 131 participants between November 2016 and May 2018. Couples were eligible for participation if one partner had a pathogenic variant predisposing for an autosomal dominant hereditary cancer syndrome. Participants completed a questionnaire before use (T0), and at 3 months (T3) after use of the decision aid to assess the primary outcome measure informed decision-making, and the secondary outcome measures decisional conflict, knowledge, realistic expectations, level of deliberation, and decision self-efficacy. T0-T3 comparisons show an overall positive effect for all outcome measures (all ps < 0.05; knowledge (ES = - 1.05), decisional conflict (ES = 0.99), participants' decision self-efficacy (ES = -0.55), level of deliberation (ES = - 0.50), and realistic expectations (ES = - 0.44). Informed decision-making increased over time and 58.0% of the participants made an informed reproductive decision at T3. The online decision aid seems to be an appropriate tool to complement standard reproductive counseling to support our target group in making an informed reproductive decision. Use of the decision aid may lessen the negative psychological impact of decision-making on couples' daily life and wellbeing.

Published
2021

39. Development of a plain-language guide for discussing breast cancer genetic counseling and testing with patients with limited health literacy

Author

Genetica Sectie Oncogenetica, Cancer, Genetica Klinische Genetica, Child Health, Genetica, CMM Groep Bos, van der Giessen, J. A.M., Ausems, M. G.E.M., van Riel, E., de Jong, A., Fransen, M. P., van Dulmen, S., Genetica Sectie Oncogenetica, Cancer, Genetica Klinische Genetica, Child Health, Genetica, CMM Groep Bos, van der Giessen, J. A.M., Ausems, M. G.E.M., van Riel, E., de Jong, A., Fransen, M. P., and van Dulmen, S.

Published
2021

40. Wanneer is onderzoek nodig bij prostaatkanker in de familie?

Author

Genetica Klinische Genetica, Child Health, Cancer, Cremers, Ruben, Blanker, Marco, van Asperen, Christi, Bloemendal, Maaike, Bangma, Chris, Kiemeney, Lambertus, Ausems, M. G.E.M., Genetica Klinische Genetica, Child Health, Cancer, Cremers, Ruben, Blanker, Marco, van Asperen, Christi, Bloemendal, Maaike, Bangma, Chris, Kiemeney, Lambertus, and Ausems, M. G.E.M.

Published
2021

41. FaMRIsc trial shows: MRI breast screening for women with ≥20% lifetime risk is also cost-effective in Europe

Author

Tilanus-Linthorst, Madeleine, primary, Geuzinge, A., additional, Obdeijn, I.M., additional, Rutgers, E., additional, Mann, R., additional, Saadatmand, S., additional, de Roy van Zuidewijn, D., additional, Oosterwijk, J., additional, Tollenaar, R., additional, Ausems, M., additional, van 't Riet, M., additional, Margrethe, S.V., additional, Hooning, M., additional, Wesseling, J., additional, Kristine, K., additional, Luiten, E., additional, Verhoef, C., additional, Heijnsdijk, E., additional, and de Koning, H., additional

Published
2021
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46. Cost-effective strategies according to the first randomized trial comparing MRI breast cancer screening with mammography in women with a familial risk: FaMRIsc

Author

Tilanus-Linthorst, M., primary, Geuzinge, A., additional, Obdeijn, A.I.M., additional, Rutgers, E., additional, Mann, R., additional, Saadatmand, S., additional, de Roy van Zuidewijn, D., additional, Tollenaar, R., additional, Lobbes, M., additional, Ausems, M., additional, van ’t Riet, M., additional, Hooning, M., additional, Luiten, E., additional, Loo, C., additional, Wesseling, J., additional, Verhoef, C., additional, Oosterwijk, J.G., additional, Heijnsdijk, E., additional, and de Koning, H., additional

Published
2020
Full Text
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49. Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

Author

Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E., Arver, Brita, Olsson, Håkan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, Easton, Douglas F., Laborde, Lilian, Breysse, Emmanuel, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Fourme-Mouret, Emmanuelle, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Faivre, Laurence, Luporsi, Elisabeth, Mari, Véronique, Gladieff, Laurence, Sobol, Hagay, Eisinger, François, Longy, Michel, Dugast, Catherine, Colas, Chrystelle, Coupier, Isabelle, Corsini, Carole, Vennin, Philippe, Adenis, Claude, Nguyen, Tan Dat, Delnatte, Capucine, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Bignon, Yves-Jean, Demange, Liliane, Penet, Clotilde, Dreyfus, Hélène, Cohen-Haguenauer, Odile, Venat-Bouvet, Laurence, Leroux, Dominique, Zattara-Cannoni, Hélène, Fert-Ferrer, Sandra, Bera, Odile, Ellis, Steve, Hogervorst, F. B. L., Collée, J. M., van Asperen, C. J., Mensenkamp, A. R., Ausems, M. G. E. M., Meijers-Heijboer, H. E. J., van Engelen, K., Blok, M. J., Oosterwijk, J. C., Verloop, J., van den Broek, E., Mavaddat, Nasim [0000-0003-0307-055X], and Apollo - University of Cambridge Repository

Subjects
Risk-reducing salpingo-oophorectomy, Breast cancer, endocrine system diseases, Mutation, skin and connective tissue diseases, BRCA1, BRCA2, Research Article
Abstract

Background: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospective studies have had limited power, particularly for BRCA2 mutation carriers. Further, previous studies have not considered the effect of RRSO in the context of natural menopause. Methods: A multi-centre prospective cohort of 2272 BRCA1 and 1605 BRCA2 mutation carriers was followed for a mean of 5.4 and 4.9 years, respectively; 426 women developed incident breast cancer. RRSO was modelled as a time-dependent covariate in Cox regression, and its effect assessed in premenopausal and postmenopausal women. Results: There was no association between RRSO and breast cancer for BRCA1 (HR = 1.23; 95% CI 0.94–1.61) or BRCA2 (HR = 0.88; 95% CI 0.62–1.24) mutation carriers. For BRCA2 mutation carriers, HRs were 0.68 (95% CI 0.40–1.15) and 1.07 (95% CI 0.69–1.64) for RRSO carried out before or after age 45 years, respectively. The HR for BRCA2 mutation carriers decreased with increasing time since RRSO (HR = 0.51; 95% CI 0.26–0.99 for 5 years or longer after RRSO). Estimates for premenopausal women were similar. Conclusion: We found no evidence that RRSO reduces breast cancer risk for BRCA1 mutation carriers. A potentially beneficial effect for BRCA2 mutation carriers was observed, particularly after 5 years following RRSO. These results may inform counselling and management of carriers with respect to RRSO.

Published
2020

50. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Author

Fachal, L., Aschard, H., Beesley, J., Barnes, D.R., Allen, J., Kar, S., Pooley, K.A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemaçon, A., Lush, M., Tyrer, J.P., Ghoussaini, M., Marjaneh, M.M., Jiang, X., Agata, S., Aittomäki, K., Alonso, M.R., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Auber, B., Auer, P.L., Azzollini, J., Balmaña, J., Barkardottir, R.B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A.M., Blomqvist, C., Blot, W., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., Briceno, I., Brock, I.W., Brooks-Wilson, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldés, T., Caligo, M.A., Camp, N.J., Campbell, I., Canzian, F., Carroll, J.S., Carter, B.D., Castelao, J.E., Chiquette, J., Christiansen, H., Chung, W.K., Claes, K.B.M., Clarke, C.L., Mari, V., Berthet, P., Castera, L., Vaur, D., Lallaoui, H., Bignon, Y.-J., Uhrhammer, N., Bonadona, V., Lasset, C., Révillion, F., Vennin, P., Muller, D., Gomes, D.M., Ingster, O., Coupier, I., Pujol, P., Collonge-Rame, M.-A., Mortemousque, I., Bera, O., Rose, M., Baurand, A., Bertolone, G., Faivre, L., Dreyfus, H., Leroux, D., Venat-Bouvet, L., Bézieau, S., Delnatte, C., Chiesa, J., Gilbert-Dussardier, B., Gesta, P., Prieur, F.P., Bronner, M., Sokolowska, J., Coulet, F., Boutry-Kryza, N., Calender, A., Giraud, S., Leone, M., Fert-Ferrer, S., Stoppa-Lyonnet, D., Jiao, Y., Lesueur, F.L., Mebirouk, N., Barouk-Simonet, E., Bubien, V., Longy, M., Sevenet, N., Gladieff, L., Toulas, C., Reimineras, A., Sobol, H., Paillerets, B.B.-D., Cabaret, O., Caron, O., Guillaud-Bataille, M., Rouleau, E., Belotti, M., Buecher, B., Caputo, S., Colas, C., Pauw, A.D., Fourme, E., Gauthier-Villars, M., Golmard, L., Moncoutier, V., Saule, C., Donaldson, A., Murray, A., Brady, A., Brewer, C., Pottinger, C., Miller, C., Gallagher, D., Gregory, H., Cook, J., Eason, J., Adlard, J., Barwell, J., Ong, K.-R., Snape, K., Walker, L., Izatt, L., Side, L., Tischkowitz, M., Rogers, M.T., Porteous, M.E., Ahmed, M., Morrison, P.J., Brennan, P., Eeles, R., Davidson, R., Collée, M., Cornelissen, S., Couch, F.J., Cox, A., Cross, S.S., Cybulski, C., Czene, K., Daly, M.B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y.C., Dite, G.S., Domchek, S.M., Dörk, T., dos-Santos-Silva, I., Droit, A., Dubois, S., Dumont, M., Duran, M., Durcan, L., Dwek, M., Eccles, D.M., Engel, C., Eriksson, M., Evans, D.G., Fasching, P.A., Fletcher, O., Floris, G., Flyger, H., Foretova, L., Foulkes, W.D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gago-Dominguez, M., Gambino, G., Ganz, P.A., Gapstur, S.M., Garber, J., García-Sáenz, J.A., Gaudet, M.M., Georgoulias, V., Giles, G., Glendon, G., Godwin, A.K., Goldberg, M.S., Goldgar, D.E., González-Neira, A., Tibiletti, M.G., Greene, M.H., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Hahnen, E., Haiman, C.A., Håkansson, N., Hall, 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Jakubowska, A., James, P.A., Janavicius, R., Jankowitz, R.C., John, E.M., Johnson, N., Jones, M.E., Jukkola-Vuorinen, A., Jung, A., Kaaks, R., Kang, D., Kapoor, P.M., Karlan, B.Y., Keeman, R., Kerin, M.J., Khusnutdinova, E., Kiiski, J.I., Kitahara, C.M., Ko, Y.-D., Konstantopoulou, I., Kosma, V.-M., Koutros, S., Kubelka-Sabit, K., Kwong, A., Kyriacou, K., Laitman, Y., Lambrechts, D., Lee, E., Leslie, G., Lester, J., Lesueur, F., Lindblom, A., Lo, W.-Y., Long, J., Lophatananon, A., Loud, J.T., Lubiński, J., MacInnis, R.J., Maishman, T., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Matsuo, K., Maurer, T., Mavroudis, D., Mayes, R., McGuffog, L., McLean, C., Meindl, A., Miller, A., Miller, N., Montagna, M., Moreno, F., Muir, K., Mulligan, A.M., Muñoz-Garzon, V.M., Muranen, T.A., Narod, S.A., Nassir, R., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Neven, P., Nielsen, F.C., Nikitina-Zake, L., Norman, A., Offit, K., Olah, E., Olopade, O.I., Olsson, H., Orr, N., Osorio, A., Pankratz, V.S., Papp, J., Park, S.K., Park-Simon, T.-W., Parsons, M.T., Paul, J., Pedersen, I.S., Peissel, B., Peshkin, B., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Prajzendanc, K., Prentice, R., Presneau, N., Prokofyeva, D., Pujana, M.A., Pylkäs, K., Radice, P., Ramus, S.J., Rantala, J., Rau-Murthy, R., Rennert, G., Risch, H.A., Robson, M., Romero, A., Rossing, M., Saloustros, E., Sánchez-Herrero, E., Sandler, D.P., Santamariña, M., Sawyer, E.J., Scheuner, M.T., Schmidt, D.F., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schöttker, B., Schürmann, P., Scott, R.J., Senter, L., Seynaeve, C.M., Shah, M., Sharma, P., Shen, C.-Y., Shu, X.-O., Singer, C.F., Slavin, T.P., Smichkoska, S., Southey, M.C., Spinelli, J.J., Spurdle, A.B., Sutter, C., Swerdlow, A.J., Tamimi, R.M., Tan, Y.Y., Tapper, W.J., Taylor, J.A., Teixeira, M.R., Tengström, M., Teo, S.H., Terry, M.B., Teulé, A., Thomassen, M., Thull, D.L., Toland, A.E., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Torres-Mejía, G., Troester, M.A., Truong, T., Tung, N., Tzardi, M., Ulmer, H.-U., Vachon, C.M., van der Kolk, L.E., van Rensburg, E.J., Vega, A., Viel, A., Vijai, J., Vogel, M.J., Wang, Q., Wappenschmidt, B., Weinberg, C.R., Weitzel, J.N., Wendt, C., Wildiers, H., Winqvist, R., Wolk, A., Wu, A.H., Yannoukakos, D., Zhang, Y., Zheng, W., Hunter, D., Pharoah, P.D.P., Chang-Claude, J., García-Closas, M., Schmidt, M.K., Kristensen, V.N., French, J.D., Edwards, S.L., Antoniou, A.C., Simard, J., Easton, D.F., Kraft, P., Dunning, A.M., Collaborators, GEMO Study, Collaborators, EMBRACE, Investigators, KConFab, Investigators, HEBON, Investigators, ABCTB, Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R, Duijf, Pascal, Dunning, Alison M, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, MUMC+: MA Medische Oncologie (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), European Commission, Government of Canada, Canadian Institutes of Health Research, National Institutes of Health (US), Cancer Research UK, Département de Biologie Computationnelle - Department of Computational Biology, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), QIMR Berghofer Medical Research Institute, University of Cambridge [UK] (CAM), NSCAD, University of Cyprus [Nicosia], Harvard T.H. Chan School of Public Health, This work was supported by the European Union’s Horizon 2020 Research and Innovation Programme under Marie Sklodowska-Curie grant agreement number 656144. Genotyping of the OncoArray was principally funded from three sources: the PERSPECTIVE project (funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the ‘Ministère de l’Économie de la Science et de l’Innovation du Québec’ (through Genome Québec) and the Quebec Breast Cancer Foundation), the NCI Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and the Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project (NIH grants U19 CA148065 and X01HG007492), and Cancer Research UK (C1287/A10118, C8197/A16565 and C1287/A16563). BCAC is funded by Cancer Research UK (C1287/A16563), by the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS) and by the European Union’s Horizon 2020 Research and Innovation Programme under grant agreements 633784 (B-CAST) and 634935 (BRIDGES). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research for the ‘CIHR Team in Familial Risks of Breast Cancer’ program, and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). Combining of the GWAS data was supported in part by NIH Cancer Post-Cancer GWAS initiative grant U19 CA 148065 (DRIVE, part of the GAME-ON initiative). For a full description of funding and acknowledgments, see the Supplementary Note., We thank all of the individuals who took part in these studies, as well as all of the researchers, clinicians, technicians and administrative staff who enabled this work to be carried out, European Project: 656144,H2020,H2020-MSCA-IF-2014,RADIOGENFF(2016), European Project: 223175,EC:FP7:HEALTH,FP7-HEALTH-2007-B,COGS(2009), European Project: 633784,H2020,H2020-PHC-2014-two-stage,B-CAST(2015), European Project: 634935,H2020,H2020-PHC-2014-two-stage,BRIDGES(2015), Clinical Genetics, Medical Oncology, Pathology, Radiology & Nuclear Medicine, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), University of Cyprus [Nicosia] (UCY), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Life Course Epidemiology (LCE), Targeted Gynaecologic Oncology (TARGON), ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Aschard, Hugues [0000-0002-7554-6783], Barnes, Daniel R [0000-0002-3781-7570], Dennis, Joe [0000-0003-4591-1214], Michailidou, Kyriaki [0000-0001-7065-1237], Lemaçon, Audrey [0000-0002-1817-7029], Andrulis, Irene L [0000-0002-4226-6435], Arason, Adalgeir [0000-0003-0480-886X], Arndt, Volker [0000-0001-9320-8684], Auber, Bernd [0000-0003-1880-291X], Azzollini, Jacopo [0000-0002-9364-9778], Bojesen, Stig E [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Campbell, Ian [0000-0002-7773-4155], Carroll, Jason S [0000-0003-3643-0080], Claes, Kathleen BM [0000-0003-0841-7372], Collée, J Margriet [0000-0002-9272-9346], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dwek, Miriam [0000-0001-7184-2932], Fletcher, Olivia [0000-0001-9387-7116], Floris, Giuseppe [0000-0003-2391-5425], Foulkes, William D [0000-0001-7427-4651], García-Sáenz, José A [0000-0001-6880-0301], Greene, Mark H [0000-0003-1852-9239], Guénel, Pascal [0000-0002-8359-518X], Heemskerk-Gerritsen, Bernadette AM [0000-0002-9724-6693], Hollestelle, Antoinette [0000-0003-1166-1966], Hulick, Peter J [0000-0001-8397-4078], Jakimovska, Milena [0000-0002-1506-0669], Jakubowska, Anna [0000-0002-5650-0501], James, Paul A [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Konstantopoulou, Irene [0000-0002-0470-0309], Leslie, Goska [0000-0001-5756-6222], Lesueur, Fabienne [0000-0001-7404-4549], Matsuo, Keitaro [0000-0003-1761-6314], McLean, Catriona [0000-0002-0302-5727], Miller, Austin [0000-0001-9739-8462], Muir, Kenneth [0000-0001-6429-988X], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Olopade, Olufunmilayo I [0000-0002-9936-1599], Orr, Nick [0000-0003-2866-942X], Pankratz, V Shane [0000-0002-3742-040X], Parsons, Michael T [0000-0003-3242-8477], Paul, James [0000-0001-7367-5816], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Pylkäs, Katri [0000-0002-2449-0521], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Robson, Mark [0000-0002-3109-1692], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Scott, Christopher [0000-0003-1340-0647], Scott, Rodney J [0000-0001-7724-3404], Spurdle, Amanda B [0000-0003-1337-7897], Stone, Jennifer [0000-0001-5077-0124], Sutter, Christian [0000-0003-4051-5888], Tan, Yen Yen [0000-0003-1063-5352], Teixeira, Manuel R [0000-0002-4896-5982], Toland, Amanda E [0000-0002-0271-1792], Tomlinson, Ian [0000-0003-3037-1470], Viel, Alessandra [0000-0003-2804-0840], Vijai, Joseph [0000-0002-7933-151X], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Pharoah, Paul DP [0000-0001-8494-732X], Schmidt, Marjanka K [0000-0002-2228-429X], Milne, Roger L [0000-0001-5764-7268], Edwards, Stacey L [0000-0001-7428-4139], Simard, Jacques [0000-0001-6906-3390], Easton, Douglas F [0000-0003-2444-3247], Kraft, Peter [0000-0002-4472-8103], Dunning, Alison M [0000-0001-6651-7166], Apollo - University of Cambridge Repository, Academic Medical Center, ARD - Amsterdam Reproduction and Development, Human genetics, CCA - Cancer biology and immunology, Molecular cell biology and Immunology, Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Doctoral Programme in Clinical Research, Staff Services, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, and Department of Obstetrics and Gynecology

Subjects
CHROMATIN, Linkage disequilibrium, Genome-wide association study, Regulatory Sequences, Nucleic Acid, Genome-wide association studies, Linkage Disequilibrium, Basic medicine, 0302 clinical medicine, Breast cancer, MESH: Risk Factors, Risk Factors, COMPREHENSIVE MOLECULAR PORTRAITS, 11 Medical and Health Sciences, HEBON Investigators, Genetics & Heredity, 0303 health sciences, [STAT.AP]Statistics [stat]/Applications [stat.AP], PROTEIN FUNCTION, Tumor, breast tumor, MESH: Polymorphism, Single Nucleotide, 1184 Genetics, developmental biology, physiology, MESH: Genetic Predisposition to Disease, apoptosis, Chromosome Mapping, Single Nucleotide, 3. Good health, MESH: Linkage Disequilibrium, Female, MESH: Biomarkers, Tumor, Biomarkers, Tumor/genetics, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Life Sciences & Biomedicine, SUSCEPTIBILITY LOCI, MESH: Bayes Theorem, Quantitative Trait Loci, ABCTB Investigators, INTEGRATIVE ANALYSIS, Breast Neoplasms, Computational biology, Biology, Quantitative trait locus, Breast Neoplasms/genetics, Polymorphism, Single Nucleotide, Article, ENHANCER, GEMO Study Collaborators, 03 medical and health sciences, breast cancer, SDG 3 - Good Health and Well-being, REVEALS, Genetics, Biomarkers, Tumor, MESH: Regulatory Sequences, Nucleic Acid, Humans, Genetic Predisposition to Disease, Polymorphism, GENOME-WIDE ASSOCIATION, FUNCTIONAL VARIANTS, EMBRACE Collaborators, Gene, 030304 developmental biology, Genetic association, Bayes Theorem, Genome-Wide Association Study, MESH: Humans, Science & Technology, Nucleic Acid, gene mapping, 06 Biological Sciences, MESH: Quantitative Trait Loci, DNA binding site, ESTROGEN-RECEPTOR, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Clinical medicine, Expression quantitative trait loci, MESH: Genome-Wide Association Study, Human genome, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, KConFab Investigators, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], MESH: Chromosome Mapping, Chromosome Mapping/methods, Regulatory Sequences, MESH: Female, Biomarkers, 030217 neurology & neurosurgery, MESH: Breast Neoplasms, Developmental Biology
Abstract

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes., This work was supported by the European Union’s Horizon 2020 Research and Innovation Programme under Marie Sklodowska-Curie grant agreement number 656144. Genotyping of the OncoArray was principally funded from three sources: the PERSPECTIVE project (funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the ‘Ministère de l’Économie de la Science et de l’Innovation du Québec’ (through Genome Québec) and the Quebec Breast Cancer Foundation); the NCI Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and the Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project (NIH grants U19 CA148065 and X01HG007492); and Cancer Research UK (C1287/A10118, C8197/A16565 and C1287/A16563). BCAC is funded by Cancer Research UK (C1287/A16563), by the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS) and by the European Union’s Horizon 2020 Research and Innovation Programme under grant agreements 633784 (B-CAST) and 634935 (BRIDGES). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research for the ‘CIHR Team in Familial Risks of Breast Cancer’ program, and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). Combining of the GWAS data was supported in part by NIH Cancer Post-Cancer GWAS initiative grant U19 CA 148065 (DRIVE; part of the GAME-ON initiative).

Published
2020
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