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1. Experience of urologists, oncologists and nurse practitioners with mainstream genetic testing in metastatic prostate cancer

Author

Vlaming, Michiel, Ausems, Margreet G. E. M., Kiemeney, Lambertus A. L. M., Schijven, Gina, van Melick, Harm H. E., Noordzij, M. Arjen, Somford, Diederik M., van der Poel, Henk G., Wijburg, Carl J., Wijsman, Bart P., Hoekstra, Robert J., van Moorselaar, Reindert J. A., van Bezooijen, Bart P. J., Meijer, Richard P., Busstra, Martijn B., van den Berg, H. Pieter, Robbrecht, Debbie G. J., Doornweerd, Benjamin H. J., Bleiker, Eveline M. A., and van Oort, Inge M.

Published
2024
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3. 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, Lara, Hooning, Maartje J, Heemskerk-Gerritsen, Bernadette A M, van Beurden, Marc, Roeters van Lennep, Jeanine E, van Doorn, Helena C, de Hullu, Joanne A, Mom, Constantijne, van Dorst, Eleonora B L, Mourits, Marian J E, Slangen, Brigitte F M, Gaarenstroom, Katja N, Zillikens, M Carola, Leiner, Tim, van der Kolk, Lizet, Collee, Margriet, Wevers, Marijke, Ausems, Margreet G E M, van Engelen, Klaartje, Berger, Lieke PV, van Asperen, Christi J, Gomez-Garcia, Encarna B, van de Beek, Irma, Rookus, Matti A, Hauptmann, Michael, Bleiker, Eveline M, Schagen, Sanne B, Aaronson, Neil K, Maas, Angela H E M, and van Leeuwen, Flora E

Subjects
Medicine, Computer applications to medicine. Medical informatics, R858-859.7
Abstract

BackgroundBRCA1/2 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. ObjectiveThe 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. MethodsWe 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. ResultsThis 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. ConclusionsKnowledge 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 offer health recommendations after RRSO. Trial RegistrationClinicalTrials.gov NCT03835793; https://clinicaltrials.gov/ct2/show/NCT03835793. International Registered Report Identifier (IRRID)DERR1-10.2196/24414

Published
2021
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5. 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, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph

Published
2023
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7. Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study

Author

van Barele, Mark, Rieborn, Amy, Heemskerk-Gerritsen, Bernadette A. M., Obdeijn, Inge-Marie, Koppert, Linetta B., Loo, Claudette E., Tollenaar, Rob A. E. M., Ausems, Margreet G. E. M., van de Beek, Irma, Berger, Lieke P. V., de Boer, Maaike, van Hest, Liselot P., Kets, C. Marleen, Rookus, Matti, Schmidt, Marjanka K., Jager, Agnes, and Hooning, Maartje J.

Published
2022
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15. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Author

Xin Yang, Mooij, Thea M., Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F., Jakubowska, Anna, van Gils, Carla H., Yen Y. Tan, Engel, Christoph, Adank, Muriel A., van Asperen, Christi J., Ausems, Margreet G. E. M., Berthet, Pascaline, Collee, Margriet J., Cook, Jackie A., Eason, Jacqueline, van Spaendonck-Zwarts, Karin Y., and Evans, D. Gareth

Abstract

Background No validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically in BRCA1/2 pathogenic variant (PV) carriers to date. Here, we evaluated the performance of BOADICEA in predicting 5-year breast cancer risks in a prospective cohort of BRCA1/2 PV carriers ascertained through clinical genetic centres. Methods We evaluated the model calibration and discriminatory ability in the prospective TRANsIBCCS cohort study comprising 1614 BRCA1 and 1365 BRCA2 PV carriers (209 incident cases). Study participants had lifestyle, reproductive, hormonal, anthropometric risk factor information, a polygenic risk score based on 313 SNPs and family history information. Results The full multifactorial model considering family history together with all other risk factors was well calibrated overall (E/O=1.07, 95% CI: 0.92 to 1.24) and in quintiles of predicted risk. Discrimination was maximised when all risk factors were considered (Harrell's C-index=0.70, 95% CI: 0.67 to 0.74; area under the curve=0.79, 95% CI: 0.76 to 0.82). The model performance was similar when evaluated separately in BRCA1 or BRCA2 PV carriers. The full model identified 5.8%, 12.9% and 24.0% of BRCA1/2 PV carriers with 5-year breast cancer risks of <1.65%, <3% and <5%, respectively, risk thresholds commonly used for different management and risk-reduction options. Conclusion BOADICEA may be used to aid personalised cancer risk management and decision-making for BRCA1 and BRCA2 PV carriers. It is implemented in the free-access CanRisk tool (https:// www.canrisk.org/). [ABSTRACT FROM AUTHOR]

Published
2024
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16. Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making

Author

Reumkens, Kelly, Tummers, Marly H. E., Severijns, Yil, Gietel-Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan-Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die-Smulders, Christine E. M., and van Osch, Liesbeth A. D. M.

Published
2021
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18. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Author

Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, Genetica Klinische Genetica, Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, EMBRACE Collaborators, Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, Genetica Klinische Genetica, Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, and EMBRACE Collaborators

Published
2024

19. Intraductal papillary mucinous neoplasms in high-risk individuals:incidence, growth rate, and malignancy risk

Author

Overbeek, Kasper A, Koopmann, Brechtje D M, Levink, Iris J M, Tacelli, Matteo, Erler, Nicole S, Arcidiacono, Paolo Giorgio, Ausems, Margreet G E, Wagner, Anja, van Eijck, Casper H, Koerkamp, Bas Groot, Busch, Olivier R, Besselink, Marc G, van der Vlugt, Manon, van Driel, Lydi M J W, Fockens, Paul, Vleggaar, Frank P, Poley, Jan-Werner, Capurso, Gabriele, Cahen, Djuna L, Bruno, Marco J, Overbeek, Kasper A, Koopmann, Brechtje D M, Levink, Iris J M, Tacelli, Matteo, Erler, Nicole S, Arcidiacono, Paolo Giorgio, Ausems, Margreet G E, Wagner, Anja, van Eijck, Casper H, Koerkamp, Bas Groot, Busch, Olivier R, Besselink, Marc G, van der Vlugt, Manon, van Driel, Lydi M J W, Fockens, Paul, Vleggaar, Frank P, Poley, Jan-Werner, Capurso, Gabriele, Cahen, Djuna L, and Bruno, Marco J

Abstract

BACKGROUND AND AIMS: In high-risk individuals (HRIs), we aimed to assess the cumulative incidence of intraductal papillary mucinous neoplasms (IPMNs) and compare IPMN growth, neoplastic progression rate, and the value of growth as predictor for neoplastic progression to these in sporadic IPMNs.METHODS: We performed annual surveillance of Dutch HRIs, involving carriers of germline pathogenic variants (PV) and PV-negative familial pancreatic cancer (FPC) kindreds. HRIs with IPMNs were compared to Italian individuals without familial risk under surveillance for sporadic IPMNs.RESULTS: 457 HRIs were followed for 48 months (range 2-172); the estimated cumulative IPMN incidence was 46% (95%CI 28-64). In comparison to 442 controls, IPMNs in HRIs were more likely to grow ≥ 2.5 mm/year (31% versus 7%, P<0.001) and to develop worrisome features (32% versus 19%, P=0.010). PV carriers with IPMNs more often displayed neoplastic progression (n=3, 11%; versus n=6, 1%; P=0.011), while FPC kindreds did not (n=0, 0%; P=1.000). The malignancy risk in a PV carrier with an IPMN was 23% for growth rates ≥2.5 mm/year (n=13), 30% for ≥5 mm/year (n=10), and 60% for ≥10 mm/year (n=5).CONCLUSIONS: The cumulative incidence of IPMNs in HRIs is higher than previously reported in the general population. Compared to sporadic IPMNs, they have an increased growth rate. PV carriers with IPMNs are suggested to be at a higher malignancy risk. Intensive follow-up should be considered for PV carriers with an IPMN growing ≥2.5 mm/year, and surgical resection for those growing ≥5 mm/year.

Published
2024

20. Intraductal papillary mucinous neoplasms in high-risk individuals: incidence, growth rate, and malignancy risk

Author

Cancer, Genetica Klinische Genetica, MS MDL 1, Overbeek, Kasper A, Koopmann, Brechtje D M, Levink, Iris J M, Tacelli, Matteo, Erler, Nicole S, Arcidiacono, Paolo Giorgio, Ausems, Margreet G E, Wagner, Anja, van Eijck, Casper H, Koerkamp, Bas Groot, Busch, Olivier R, Besselink, Marc G, van der Vlugt, Manon, van Driel, Lydi M J W, Fockens, Paul, Vleggaar, Frank P, Poley, Jan-Werner, Capurso, Gabriele, Cahen, Djuna L, Bruno, Marco J, Dutch Familial Pancreatic Cancer Surveillance Study work group, Cancer, Genetica Klinische Genetica, MS MDL 1, Overbeek, Kasper A, Koopmann, Brechtje D M, Levink, Iris J M, Tacelli, Matteo, Erler, Nicole S, Arcidiacono, Paolo Giorgio, Ausems, Margreet G E, Wagner, Anja, van Eijck, Casper H, Koerkamp, Bas Groot, Busch, Olivier R, Besselink, Marc G, van der Vlugt, Manon, van Driel, Lydi M J W, Fockens, Paul, Vleggaar, Frank P, Poley, Jan-Werner, Capurso, Gabriele, Cahen, Djuna L, Bruno, Marco J, and Dutch Familial Pancreatic Cancer Surveillance Study work group

Published
2024

21. Urinary incontinence more than 15 years after premenopausal risk-reducing salpingo-oophorectomy: a multicentre cross-sectional study

Author

MS Gynaecologische Oncologie, Cancer, Genetica Klinische Genetica, Terra, Lara, Heemskerk-Gerritsen, Bernadette A M, Beekman, Maarten J, Engelhardt, Ellen, Mourits, Marian J E, van Doorn, Helena C, de Hullu, Joanna A, Mom, Constantijne H, Slangen, Brigitte F M, Gaarenstroom, Katja N, van Beurden, Marc, Roeters Van Lennep, Jeanine E, van Dorst, Eleonora B L, van der Kolk, Lizet E, Collée, J Margriet, Wevers, Marijke R, Ausems, Margreet G E M, van Engelen, Klaartje, van de Beek, Irma, Berger, Lieke P V, van Asperen, Christi J, Gomez Garcia, Encarna B, Maas, Angela H E M, Hooning, Maartje J, Steensma, Anneke B, van Leeuwen, Flora E, MS Gynaecologische Oncologie, Cancer, Genetica Klinische Genetica, Terra, Lara, Heemskerk-Gerritsen, Bernadette A M, Beekman, Maarten J, Engelhardt, Ellen, Mourits, Marian J E, van Doorn, Helena C, de Hullu, Joanna A, Mom, Constantijne H, Slangen, Brigitte F M, Gaarenstroom, Katja N, van Beurden, Marc, Roeters Van Lennep, Jeanine E, van Dorst, Eleonora B L, van der Kolk, Lizet E, Collée, J Margriet, Wevers, Marijke R, Ausems, Margreet G E M, van Engelen, Klaartje, van de Beek, Irma, Berger, Lieke P V, van Asperen, Christi J, Gomez Garcia, Encarna B, Maas, Angela H E M, Hooning, Maartje J, Steensma, Anneke B, and van Leeuwen, Flora E

Published
2024

26. MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial

Author

van Deurzen, Carolien HM, Loo, Claudette E, Wesseling, Jelle, Schlooz-Vries, Margrethe, van der Meij, Suzan, Mesker, Wilma, Keymeulen, Kristien, Contant, Carolien, Madsen, Eva, Koppert, Linetta B, Rothbarth, Joost, Veldhuis, Wouter B, Witkamp, Arjen J, Tetteroo, Eric, de Monye, Cecile, van Rosmalen, Mandy M, Remmelzwaal, Jolanda, Gort, Huub B W, Roi-Antonides, Roelie, Wasser, Martin NJM, van Druten, Edith, Saadatmand, Sepideh, Geuzinge, H Amarens, Rutgers, Emiel J T, Mann, Ritse M, de Roy van Zuidewijn, Diderick B W, Zonderland, Harmien M, Tollenaar, Rob A E M, Lobbes, Marc B I, Ausems, Margreet G E M, van 't Riet, Martijne, Hooning, Maartje J, Mares-Engelberts, Ingeborg, Luiten, Ernest J T, Heijnsdijk, Eveline A M, Verhoef, Cees, Karssemeijer, Nico, Oosterwijk, Jan C, Obdeijn, Inge-Marie, de Koning, Harry J, and Tilanus-Linthorst, Madeleine M A

Published
2019
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28. Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers

Author

Heemskerk-Gerritsen, Bernadette A. M., Jager, Agnes, Koppert, Linetta B., Obdeijn, A. Inge-Marie, Collée, Margriet, Meijers-Heijboer, Hanne E. J., Jenner, Denise J., Oldenburg, Hester S. A., van Engelen, Klaartje, de Vries, Jakob, van Asperen, Christi J., Devilee, Peter, Blok, Marinus J., Kets, C. Marleen, Ausems, Margreet G. E. M., Seynaeve, Caroline, Rookus, Matti A., and Hooning, Maartje J.

Published
2019
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29. Information Provision Regarding Health-Related Direct-to-Consumer Genetic Testing for Dutch Consumers: An in-Depth Content Analysis of Sellers' Websites.

Author

Bruins, Danny, Onstwedder, Suzanne M., Cornel, Martina C., Ausems, Margreet G. E. M., van Mil, Marc H. W., and Rigter, Tessel

Subjects
GENETIC testing, CONSUMER behavior, CONTENT analysis, CONSUMERS, WEBSITES
Abstract

Background: Previous studies have suggested that information offered by sellers of health-related direct-to-consumer genetic tests (DTC-GTs) is often incomplete, unbalanced, or too difficult to understand. The extent to which this is the case for sellers accessible to Dutch consumers has not previously been studied. Methods and Goals: The present study aimed to assess the completeness, balance, readability, and findability of informational content on a selection of websites from several health-related DTC-GT sellers accessible to Dutch consumers. An in-depth content analysis was performed based on a recently published checklist outlining key items for policy guidance regarding DTC-GT services. Results: The information provided by sellers did not equally cover all aspects relevant to health-related DTC-GT service provision. The provided information was slightly unbalanced, with benefits of health-related DTC-GT usage being overemphasized compared to its risks and limitations. The readability of the provided information was low, on average requiring college education for proper understanding. A findability analysis showed that information concerning all themes is overall relatively evenly distributed across analyzed sellers' websites. Conclusions: Information provision by assessed health-related DTC-GT sellers is suboptimal regarding completeness, balance, and readability. To better empower potential consumers to make an informed decision regarding health-related DTC-GT usage, we advocate industry-wide enhancement of information provision. [ABSTRACT FROM AUTHOR]

Published
2024
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30. The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study

Author

Reumkens, Kelly, Tummers, Marly H. E., Gietel-Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, C. Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan-Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die-Smulders, Christine E. M., and van Osch, Liesbeth A. D. M.

Published
2019
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32. Urinary incontinence more than 15 years after premenopausal risk‐reducing salpingo‐oophorectomy: a multicentre cross‐sectional study

Author

Terra, Lara, primary, Heemskerk‐Gerritsen, Bernadette A. M., additional, Beekman, Maarten J., additional, Engelhardt, Ellen, additional, Mourits, Marian J. E., additional, van Doorn, Helena C., additional, de Hullu, Joanna A., additional, Mom, Constantijne H., additional, Slangen, Brigitte F. M., additional, Gaarenstroom, Katja N., additional, van Beurden, Marc, additional, Roeters Van Lennep, Jeanine E., additional, van Dorst, Eleonora B. L., additional, van der Kolk, Lizet E., additional, Collée, J. Margriet, additional, Wevers, Marijke R., additional, Ausems, Margreet G .E. M., additional, van Engelen, Klaartje, additional, van de Beek, Irma, additional, Berger, Lieke P. V., additional, van Asperen, Christi J., additional, Gomez Garcia, Encarna B., additional, Maas, Angela H. E. M., additional, Hooning, Maartje J., additional, Steensma, Anneke B., additional, and van Leeuwen, Flora E., additional

Published
2023
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33. The most efficient and effective BRCA1/2 testing strategy in epithelial ovarian cancer: Tumor-First or Germline-First?

Author

Witjes, V.M., Ligtenberg, M.J.L., Vos, J.R., Braspenning, J.C.C., Ausems, Margreet G. E. M., Mourits, M.J.E., Hullu, J.A. de, Adang, E.M.M., Hoogerbrugge, N., Witjes, V.M., Ligtenberg, M.J.L., Vos, J.R., Braspenning, J.C.C., Ausems, Margreet G. E. M., Mourits, M.J.E., Hullu, J.A. de, Adang, E.M.M., and Hoogerbrugge, N.

Abstract

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Published
2023

34. High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants:Prevalence and Clinical Factors

Author

Stroot, Iris A S, Brouwer, Jan, Bart, Joost, Hollema, Harry, Stommel-Jenner, Denise J, Wagner, Marise M, van Doorn, Helena C, de Hullu, Joanne A, Gaarenstroom, Katja N, Beurden, Marc, van Lonkhuijzen, Luc R C W, Slangen, Brigitte F M, Zweemer, Ronald P, Gómez Garcia, Encarna B, Ausems, Margreet G E M, Boere, Ingrid A, van Engelen, Klaartje, van Asperen, Christi J, Schmidt, Marjanka K, Wevers, Marijke R, de Bock, Geertruida H, Mourits, Marian J E, Stroot, Iris A S, Brouwer, Jan, Bart, Joost, Hollema, Harry, Stommel-Jenner, Denise J, Wagner, Marise M, van Doorn, Helena C, de Hullu, Joanne A, Gaarenstroom, Katja N, Beurden, Marc, van Lonkhuijzen, Luc R C W, Slangen, Brigitte F M, Zweemer, Ronald P, Gómez Garcia, Encarna B, Ausems, Margreet G E M, Boere, Ingrid A, van Engelen, Klaartje, van Asperen, Christi J, Schmidt, Marjanka K, Wevers, Marijke R, de Bock, Geertruida H, and Mourits, Marian J E

Abstract

PURPOSE: To investigate the prevalence of and clinical factors associated with high-grade serous carcinoma (HGSC) at risk-reducing salpingo-oophorectomy (RRSO) in asymptomatic BRCA1/2-pathogenic variant (PV) carriers.PATIENTS AND METHODS: We included BRCA1/2-PV carriers who underwent RRSO between 1995 and 2018 from the Hereditary Breast and Ovarian cancer in the Netherlands study. All pathology reports were screened, and histopathology reviews were performed for RRSO specimens with epithelial abnormalities or where HGSC developed after normal RRSO. We then compared clinical characteristics, including parity and oral contraceptive pill (OCP) use, for women with and without HGSC at RRSO.RESULTS: Of the 2,557 included women, 1,624 had BRCA1, 930 had BRCA2, and three had both BRCA1/2-PV. The median age at RRSO was 43.0 years (range: 25.3-73.8) for BRCA1-PV and 46.8 years (27.6-77.9) for BRCA2-PV carriers. Histopathologic review confirmed 28 of 29 HGSCs and two further HGSCs from among 20 apparently normal RRSO specimens. Thus, 24 (1.5%) BRCA1-PV and 6 (0.6%) BRCA2-PV carriers had HGSC at RRSO, with the fallopian tube identified as the primary site in 73%. The prevalence of HGSC in women who underwent RRSO at the recommended age was 0.4%. Among BRCA1/2-PV carriers, older age at RRSO increased the risk of HGSC and long-term OCP use was protective.CONCLUSION: We detected HGSC in 1.5% (BRCA1-PV) and 0.6% (BRCA2-PV) of RRSO specimens from asymptomatic BRCA1/2-PV carriers. Consistent with the fallopian tube hypothesis, we found most lesions in the fallopian tube. Our results highlight the importance of timely RRSO with total removal and assessment of the fallopian tubes and show the protective effects of long-term OCP.

Published
2023

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

Author

Lakeman, Inge M. M., Rodriguez-Girondo, Mar D. M., Lee, Andrew, Celosse, Nandi, Braspenning, Merel E., van Engelen, Klaartje, van de Beek, Irma, van der Hout, Annemiek H., Garcia, Encarna B. Gomez, Mensenkamp, Arjen R., Ausems, Margreet G. E. M., Hooning, Maartje J., Adank, Muriel A., Hollestelle, Antoinette, Schmidt, Marjanka K., van Asperen, Christi J., Devilee, Peter, Lakeman, Inge M. M., Rodriguez-Girondo, Mar D. M., Lee, Andrew, Celosse, Nandi, Braspenning, Merel E., van Engelen, Klaartje, van de Beek, Irma, van der Hout, Annemiek H., Garcia, Encarna B. Gomez, Mensenkamp, Arjen R., Ausems, Margreet G. E. M., Hooning, Maartje J., Adank, Muriel A., Hollestelle, Antoinette, Schmidt, Marjanka K., van Asperen, Christi J., and Devilee, Peter

Abstract

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 (PRS313) 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 PRS313 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 PRS313. 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 PRS313 was significantly associated with BC (per SD OR=1.97, 95% CI 1.84 to 2.11). Including the PRS313 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 PRS313 had the largest impact for CHEK2 and ATM. Conclusions Our results support the application of the PRS313 in risk prediction for genetically uninformative BC families and families with a PV in moderate BC risk genes.

Published
2023

36. The most efficient and effective BRCA1/2 testing strategy in epithelial ovarian cancer: Tumor-First or Germline-First?

Author

Genetica Klinische Genetica, Cancer, Witjes, Vera M, Ligtenberg, Marjolijn J L, Vos, Janet R, Braspenning, Jozé C C, Ausems, Margreet G E M, Mourits, Marian J E, de Hullu, Joanne A, Adang, Eddy M M, Hoogerbrugge, Nicoline, Genetica Klinische Genetica, Cancer, Witjes, Vera M, Ligtenberg, Marjolijn J L, Vos, Janet R, Braspenning, Jozé C C, Ausems, Margreet G E M, Mourits, Marian J E, de Hullu, Joanne A, Adang, Eddy M M, and Hoogerbrugge, Nicoline

Published
2023

37. ASO Visual Abstract: Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling

Author

Genetica Sectie Oncogenetica, Genetica Klinische Genetica, MS CGO, Genetica, Genetica Sectie Genoomdiagnostiek, Cancer, Bokkers, Kyra, Bleiker, Eveline M A, Aalfs, Cora M, van Dalen, Thijs, Velthuizen, Mary E, Duijveman, Petra, Sijmons, Rolf H, Koole, Wouter, Schoenmaeckers, Ernst J P, Ausems, Margreet G E M, Genetica Sectie Oncogenetica, Genetica Klinische Genetica, MS CGO, Genetica, Genetica Sectie Genoomdiagnostiek, Cancer, Bokkers, Kyra, Bleiker, Eveline M A, Aalfs, Cora M, van Dalen, Thijs, Velthuizen, Mary E, Duijveman, Petra, Sijmons, Rolf H, Koole, Wouter, Schoenmaeckers, Ernst J P, and Ausems, Margreet G E M

Published
2023

39. Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy

Author

MS Gynaecologische Oncologie, Cancer, Genetica Klinische Genetica, Terra, Lara, Beekman, Maarten J, Engelhardt, Ellen G, Heemskerk-Gerritsen, Bernadette A M, Van Beurden, Marc, Roeters Van Lennep, Jeanine E, Van Doorn, Helena C, De Hullu, Joanne A, Van Dorst, Eleonora B L, Mom, Constantijne H, Slangen, Brigitte F M, Gaarenstroom, Katja N, van der Kolk, Lizet E, Margriet Collée, J, Wevers, Marijke R, Ausems, Margreet G E M, Van Engelen, K, Van De Beek, I, Berger, Lieke P V, Van Asperen, Christi J, Gomez Garcia, Encarna B, Maas, Angela H E M, Hooning, Maartje J, Aaronson, Neil K, Mourits, Marian J E, Van Leeuwen, Flora E, MS Gynaecologische Oncologie, Cancer, Genetica Klinische Genetica, Terra, Lara, Beekman, Maarten J, Engelhardt, Ellen G, Heemskerk-Gerritsen, Bernadette A M, Van Beurden, Marc, Roeters Van Lennep, Jeanine E, Van Doorn, Helena C, De Hullu, Joanne A, Van Dorst, Eleonora B L, Mom, Constantijne H, Slangen, Brigitte F M, Gaarenstroom, Katja N, van der Kolk, Lizet E, Margriet Collée, J, Wevers, Marijke R, Ausems, Margreet G E M, Van Engelen, K, Van De Beek, I, Berger, Lieke P V, Van Asperen, Christi J, Gomez Garcia, Encarna B, Maas, Angela H E M, Hooning, Maartje J, Aaronson, Neil K, Mourits, Marian J E, and Van Leeuwen, Flora E

Published
2023

40. Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation.

Author

Barele, Mark van, Akdeniz, Delal, Heemskerk-Gerritsen, Bernadette A M, Genepso, Andrieu, Nadine, Noguès, Catherine, HEBON, Asperen, Christi J van, Wevers, Marijke, Ausems, Margreet G E M, Bock, Geertruida H de, Dommering, Charlotte J, Gómez-García, Encarnacion B, Leeuwen, Flora E van, Mooij, Thea M, EMBRACE, Easton, Douglas F, Antoniou, Antonis C, Evans, D Gareth, and Izatt, Louise

Subjects
RADIOTHERAPY, RADIATION carcinogenesis, BREAST cancer, CANCER patients, DISEASE risk factors, PROPORTIONAL hazards models, STATISTICAL hypothesis testing
Abstract

Background Radiation-induced secondary breast cancer (BC) may be a concern after radiation therapy (RT) for primary breast cancer (PBC), especially in young patients with germline (g) BRCA –associated BC who already have high contralateral BC (CBC) risk and potentially increased genetic susceptibility to radiation. We sought to investigate whether adjuvant RT for PBC increases the risk of CBC in patients with g BRCA1/2 -associated BC. Methods The g BRCA1/2 pathogenic variant carriers diagnosed with PBC were selected from the prospective International BRCA1/2 Carrier Cohort Study. We used multivariable Cox proportional hazards models to investigate the association between RT (yes vs no) and CBC risk. We further stratified for BRCA status and age at PBC diagnosis (<40 and > 40 years). Statistical significance tests were 2-sided. Results Of 3602 eligible patients, 2297 (64%) received adjuvant RT. Median follow-up was 9.6 years. The RT group had more patients with stage III PBC than the non-RT group (15% vs 3%, P  < .001), received chemotherapy more often (81% vs 70%, P  < .001), and received endocrine therapy more often (50% vs 35%, P  < .001). The RT group had an increased CBC risk compared with the non-RT group (adjusted hazard ratio [HR] = 1.44; 95% confidence interval [CI] = 1.12 to 1.86). Statistical significance was observed in g BRCA2 (HR = 1.77; 95% CI = 1.13 to 2.77) but not in g BRCA1 pathogenic variant carriers (HR = 1.29; 95% CI = 0.93 to 1.77; P  = .39 for interaction). In the combined gBRCA1/2 group, patients irradiated when they were younger than or older than 40 years of age at PBC diagnosis showed similar risks (HR = 1.38; 95% CI = 0.93 to 2.04 and HR = 1.56; 95% CI = 1.11 to 2.19, respectively). Conclusions RT regimens minimizing contralateral breast dose should be considered in g BRCA1/2 pathogenic variant carriers. [ABSTRACT FROM AUTHOR]

Published
2023
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41. Additional file 2 of 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, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph

Abstract

Additional file 2: Table S2. Retrospective and prospective analysis of height in quintiles and breast cancer risk, by menopausal status.

Published
2023
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42. Additional file 3 of 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, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph

Abstract

Additional file 3: Table S3. Retrospective analysis of height, body mass index, weight change and breast cancer risk, by menopausal status.

Published
2023
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43. Additional file 1 of 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, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph

Abstract

Additional file 1: Table S1. Overview of the studies contributing to the retrospective and prospective analyses.

Published
2023
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44. Additional file 5 of 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, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph

Abstract

Additional file 5: Table S5. Weight versus body mass index and breast cancer risk in BRCA1 and BRCA2 variant carriers, by menopausal status.

Published
2023
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45. Additional file 4 of 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, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., and Engel, Christoph

Abstract

Additional file 4: Table S4. Prospective analysis of associations between height, body mass index, weight change and breast cancer risk, by menopausal status.

Published
2023
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47. Long‐term effects of premenopausal risk‐reducing salpingo‐oophorectomy on cognition in women with high familial risk of ovarian cancer: A cross‐sectional study

Author

Terra, Lara, primary, Lee Meeuw Kjoe, Philippe R., additional, Agelink Van Rentergem, Joost A., additional, Beekman, Maarten J., additional, Heemskerk‐Gerritsen, Bernadette A. M., additional, Van Beurden, Marc, additional, Roeters Van Lennep, Jeanine E., additional, Van Doorn, Helena C., additional, De Hullu, Joanna A., additional, Mourits, Marian J. E., additional, Van Dorst, Eleonora B. L., additional, Mom, Constantijne H., additional, Slangen, Brigitte F. M., additional, Gaarenstroom, Katja N., additional, van der Kolk, Lizet E., additional, Collée, J. Margriet, additional, Wevers, Marijke R., additional, Ausems, Margreet G. E. M., additional, Van Engelen, Klaartje, additional, Van De Beek, Irma, additional, Berger, Lieke P. V., additional, Van Asperen, Christi J., additional, Gomez Garcia, Encarna B., additional, Maas, Angela H. E. M., additional, Hooning, Maartje J., additional, Van Der Wall, Elsken, additional, Van Leeuwen, Flora E., additional, and Schagen, Sanne B., additional

Published
2023
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48. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Author

Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul, Clinical Genetics, Medical Oncology, Surgery, Pathology, Gynecological Oncology, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Lakeman IMM] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [van den Broek AJ, Vos JAM] Division of Molecular Pathology, The Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. [Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Adlard J] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [Balmaña J] Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Human Genetics, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Quality of Care, Chapel Allerton Hospital, University of Leeds, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Reykjavík University, Division of Oncology, Department of Gynaecology and Obstetrics, University Hospital Schleswig–Holstein, The University of Texas M.D. Anderson Cancer Center [Houston], Unitat d'Alt Risc i Prevenció del Càncer, Vall d'Hebron University Hospital [Barcelona], University of Cambridge [UK] (CAM), Group of Human Genetics, Human Cancer Genetics Programme, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Section of Genetic Oncology, University of Pisa - Università di Pisa, Columbia University [New York], Ghent University Hospital, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Laboratory Medicine and Pathology, Mayo Clinic, Division of Population Science, Fox Chase Cancer Center, Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), CHU Grenoble, CHI Poissy-Saint-Germain, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and Klinische Genetica

Subjects
0301 basic medicine, Percentile, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [DISEASES], Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], SUSCEPTIBILITY ALLELES, Diàtesi, FAMILIES, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], MESH: BRCA2 Protein, Breast cancer, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Other subheadings::/diagnosis [Other subheadings], Medicine and Health Sciences, Medicine, Mama - Càncer - Diagnòstic, Family history, skin and connective tissue diseases, Genetics (clinical), MESH: Heterozygote, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Factors de risc en les malalties, BRCA1 Protein, Hazard ratio, MESH: Genetic Predisposition to Disease, 1184 Genetics, developmental biology, physiology, article, OVARIAN, BRCA2 Protein/genetics, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 3. Good health, 030220 oncology & carcinogenesis, Female, Malalties congènites, Adult, Heterozygote, medicine.medical_specialty, MESH: Mutation, Risk factors in diseases, Otros calificadores::/diagnóstico [Otros calificadores], Breast Neoplasms, Context (language use), MUTATION CARRIERS, Càncer de mama, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad [ENFERMEDADES], 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, Humans, Genetic Predisposition to Disease, MESH: BRCA1 Protein, Retrospective Studies, BRCA2 Protein, MESH: Humans, business.industry, Proportional hazards model, CONSORTIUM, Breast Neoplasms/diagnosis, MESH: Adult, MESH: Retrospective Studies, Retrospective cohort study, medicine.disease, Confidence interval, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, BRCA1 Protein/genetics, 3111 Biomedicine, business, MESH: Female, MESH: Breast Neoplasms
Abstract

Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic variant Purpose To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC

Published
2021
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