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32 results on '"Wevers, Marijke R."'

1. Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers

Author

Stroot, Iris A.S., Bart, Joost, Hollema, Harry, Jalving, Mathilde, Wagner, Marise M., Yigit, Refika, van Doorn, Helena C., de Hullu, Joanne A., Gaarenstroom, Katja N., van Beurden, Marc, van Lonkhuijzen, Luc R.C.W., Slangen, Brigitte F.M., Zweemer, Ronald P., Gómez García, Encarna B., Ausems, Margreet G.E.M., Boere, Ingrid A., van Hest, Liselotte P., Duijkers, Floor A.M., van Asperen, Christi J., Schmidt, Marjanka K., Wevers, Marijke R., Ruijs, Marielle W.G., Devilee, Peter, Collée, J. Margriet, HEBON investigators, de Bock, Geertruida H., and Mourits, Marian J.E.

Published
2024
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2. The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Author

Hinić, Snežana, Cybulski, Cezary, Van der Post, Rachel S., Vos, Janet R., Schuurs-Hoeijmakers, Janneke, Brugnoletti, Fulvia, Koene, Saskia, Vreede, Lilian, van Zelst-Stams, Wendy A.G., Kets, C. Marleen, Haadsma, Maaike, Spruijt, Liesbeth, Wevers, Marijke R., Evans, D. Gareth, Wimmer, Katharina, Schnaiter, Simon, Volk, Alexander E., Möllring, Anna, de Putter, Robin, Soikkonen, Leila, Kahre, Tiina, Tooming, Mikk, de Jong, Mirjam M., Vaz, Fátima, Mensenkamp, Arjen R., Genuardi, Maurizio, Lubinski, Jan, Ligtenberg, Marjolijn, Hoogerbrugge, Nicoline, and de Voer, Richarda M.

Published
2024
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3. 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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4. Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer

Author

Mensenkamp, Arjen R., van Kessel, Ad Geurts, Spruijt, Liesbeth, Kets, C. Marleen, van Zelst-Stam, Wendy A.G., Schouten, Meyke I., Wevers, Marijke R., Olderode-Berends, Maran J.W., Oosterwijk, Jan C., Hitzert, Marrit M., Letteboer, Tom G.W., Stanković, Snežana, Kamping, Eveline J., Yuniati, Laurensia, van Leeuwen, Frank N., Weitz, Jürgen, van der Post, Rachel S., Teixeira, Manuel R., Liu, Huanliang, Wang, Jianping, Jongmans, Marjolijn C.J., Zhang, Junxiao, Kuiper, Roland P., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., and De Voer, Richarda M.

Published
2022
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5. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Author

Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, van Ravenswaaij-Arts, Conny M. A., Shinawi, Marwan, Andrews, Marisa, Attie-Bitach, Tania, Maystadt, Isabelle, Belnap, Newell, Benoit, Valerie, Delplancq, Geoffroy, de Vries, Bert B. A., Grotto, Sarah, Lacombe, Didier, Larson, Austin, Mourmans, Jeroen, Õunap, Katrin, Petrilli, Giulia, Pfundt, Rolph, Ramsey, Keri, Blok, Lot Snijders, Tsatsaris, Vassilis, Vitobello, Antonio, Faivre, Laurence, Wheeler, Patricia G., Wevers, Marijke R., Wojcik, Monica, Zweier, Markus, Gozani, Or, and Rauch, Anita

Published
2021
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6. Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy

Author

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., 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., Aaronson, Neil K., Mourits, Marian J.E., and van Leeuwen, Flora E.

Published
2023
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8. Urinary incontinence more than 15 years after premenopausal risk‐reducing salpingo‐oophorectomy: a multicentre cross‐sectional study.

Author

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, and Berger, Lieke P. V.

Subjects
URINARY incontinence, SALPINGO-oophorectomy, CROSS-sectional method, QUALITY of life, PSYCHOLOGICAL distress
Abstract

Objective: To study the impact of premenopausal risk‐reducing salpingo‐oophorectomy (RRSO), compared with postmenopausal RRSO, on urinary incontinence (UI) ≥10 years later. Design: Cross‐sectional study, nested in a nationwide cohort. Setting: Multicentre in the Netherlands. Population: 750 women (68% BRCA1/2 pathogenic variant carriers) who underwent either premenopausal RRSO (≤45 years, n = 496) or postmenopausal RRSO (≥54 years, n = 254). All participants were ≥55 years at the time of the study. Methods: Urinary incontinence was assessed by the urinary distress inventory‐6 (UDI‐6); a score ≥33.3 indicated symptomatic UI. The incontinence impact questionnaire short form (IIQ‐SF) was used to assess the impact on women's health‐related quality of life (HR‐QoL). Differences between groups were analysed using regression analyses adjusting for current age and other confounders. Main outcome measures: Differences in UDI‐6 scores and IIQ‐SF scores between women with a premenopausal and a postmenopausal RRSO. Results: Women in the premenopausal RRSO group had slightly higher UDI‐6 scores compared with women in the postmenopausal RRSO group (P = 0.053), and their risk of symptomatic UI was non‐significantly increased (odds ratio [OR] 2.1, 95% confidence interval [95% CI] 0.93–4.78). A premenopausal RRSO was associated with a higher risk of stress UI (OR 3.5, 95% CI 1.2–10.0) but not with urge UI. The proportions of women with a significant impact of UI on HR‐QoL were similar in the premenopausal and postmenopausal RRSO groups (10.4% and 13.0%, respectively; P = 0.46). Conclusions: More than 15 years after premenopausal RRSO, there were no significant differences in overall symptomatic UI between women with a premenopausal and those with a postmenopausal RRSO. [ABSTRACT FROM AUTHOR]

Published
2024
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9. 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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11. 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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12. 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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13. 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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14. 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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15. 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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16. 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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17. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Author

Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., van Engelen, Klaartje, Wevers, Marijke R., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Walker, Logan C., MUMC+: DA KG Lab Specialisten (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Institut Català de la Salut, [Hakkaart C, Pearson JF, Wiggins GAR] Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. [Marquart L] QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. School of Public Health, University of Queensland, Brisbane, Australia. [Dennis J, Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [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. [Diez O] Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, Pediatrics, Human genetics, Cancer Center Amsterdam, Faculteit Medische Wetenschappen/UMCG, and Medical Oncology

Subjects
Estrogen-metabolizing enzymes, Heterozygote, DNA Copy Number Variations, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], Messenger, Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Medicine (miscellaneous), Expression, Genetics and Molecular Biology, Breast Neoplasms, Breast Neoplasms/genetics, Genetic polymorphisms, Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Genomic Structural Variation::DNA Copy Number Variations [PHENOMENA AND PROCESSES], General Biochemistry, Genetics and Molecular Biology, Dna-adducts, Association, Mama - Càncer - Propensió, SDG 3 - Good Health and Well-being, Other subheadings::Other subheadings::/genetics [Other subheadings], Medicine and Health Sciences, Humans, Genetic Predisposition to Disease, Familial breast, RNA, Messenger, fenómenos genéticos::variación genética::polimorfismo genético::variación estructural genómica::variaciones del número de copias de ADN [FENÓMENOS Y PROCESOS], fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], BRCA2 Protein, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Otros calificadores::Otros calificadores::/genética [Otros calificadores], BRCA1 Protein, Isoform 1a1 sult1a1, Sulfotransferase, BRCA2 Protein/genetics, Genòmica, Ovarian, General Biochemistry, Mama - Càncer - Aspectes genètics, RNA, BRCA1 Protein/genetics, Female, 3111 Biomedicine, General Agricultural and Biological Sciences, Brca1
Abstract

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09–1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.

Published
2022

18. Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients’ and health professionals’ attitudes, experiences, and evaluation of effects on treatment decision making

Author

Wevers, Marijke R., Aaronson, Neil K., Bleiker, Eveline M. A., Hahn, Daniela E. E., Brouwer, Titia, van Dalen, Thijs, Theunissen, Evert B., van Ooijen, Bart, de Roos, Marnix A., Borgstein, Paul J., Vrouenraets, Bart C., Vriens, Eline, Bouma, Wim H., Rijna, Herman, Vente, Johannes P., Kuenen, Marianne A., van der Sanden‐Melis, Jacoline, Witkamp, Arjen J., Rutgers, Emiel J. Th., Verhoef, Senno, and Ausems, Margreet G. E. M.

Published
2017
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19. 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., and Wevers, Marijke R.

Published
2023
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20. Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study

Author

Akdeniz, Delal, primary, van Barele, Mark, additional, Heemskerk-Gerritsen, Bernadette A.M., additional, Steyerberg, Ewout W., additional, Hauptmann, Michael, additional, van de Beek, Irma, additional, van Engelen, Klaartje, additional, Wevers, Marijke R., additional, Gómez García, Encarnacion B., additional, Ausems, Margreet G.E.M., additional, Berger, Lieke P.V., additional, van Asperen, Christi J., additional, Adank, Muriel A., additional, Collée, Margriet J., additional, Stommel-Jenner, Denise J., additional, Jager, Agnes, additional, Schmidt, Marjanka K., additional, and Hooning, Maartje J., additional

Published
2022
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21. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Author

Goodman, Lindsey D., primary, Cope, Heidi, additional, Nil, Zelha, additional, Ravenscroft, Thomas A., additional, Charng, Wu-Lin, additional, Lu, Shenzhao, additional, Tien, An-Chi, additional, Pfundt, Rolph, additional, Koolen, David A., additional, Haaxma, Charlotte A., additional, Veenstra-Knol, Hermine E., additional, Wassink-Ruiter, Jolien S. Klein, additional, Wevers, Marijke R., additional, Jones, Melissa, additional, Walsh, Laurence E., additional, Klee, Victoria H., additional, Theunis, Miel, additional, Legius, Eric, additional, Steel, Dora, additional, Barwick, Katy E.S., additional, Kurian, Manju A., additional, Mohammad, Shekeeb S., additional, Dale, Russell C., additional, Terhal, Paulien A., additional, van Binsbergen, Ellen, additional, Kirmse, Brian, additional, Robinette, Bethany, additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Grebe, Theresa A., additional, Kulch, Peggy, additional, Hainline, Bryan E., additional, Sapp, Katherine, additional, Morava, Eva, additional, Klee, Eric W., additional, Macke, Erica L., additional, Trapane, Pamela, additional, Spencer, Christopher, additional, Si, Yue, additional, Begtrup, Amber, additional, Moulton, Matthew J., additional, Dutta, Debdeep, additional, Kanca, Oguz, additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Bellen, Hugo J., additional, and Tan, Queenie K.-G., additional

Published
2021
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22. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Author

Radio, Francesca Clementina, primary, Pang, Kaifang, additional, Ciolfi, Andrea, additional, Levy, Michael A., additional, Hernández-García, Andrés, additional, Pedace, Lucia, additional, Pantaleoni, Francesca, additional, Liu, Zhandong, additional, de Boer, Elke, additional, Jackson, Adam, additional, Bruselles, Alessandro, additional, McConkey, Haley, additional, Stellacci, Emilia, additional, Lo Cicero, Stefania, additional, Motta, Marialetizia, additional, Carrozzo, Rosalba, additional, Dentici, Maria Lisa, additional, McWalter, Kirsty, additional, Desai, Megha, additional, Monaghan, Kristin G., additional, Telegrafi, Aida, additional, Philippe, Christophe, additional, Vitobello, Antonio, additional, Au, Margaret, additional, Grand, Katheryn, additional, Sanchez-Lara, Pedro A., additional, Baez, Joanne, additional, Lindstrom, Kristin, additional, Kulch, Peggy, additional, Sebastian, Jessica, additional, Madan-Khetarpal, Suneeta, additional, Roadhouse, Chelsea, additional, MacKenzie, Jennifer J., additional, Monteleone, Berrin, additional, Saunders, Carol J., additional, Jean Cuevas, July K., additional, Cross, Laura, additional, Zhou, Dihong, additional, Hartley, Taila, additional, Sawyer, Sarah L., additional, Monteiro, Fabíola Paoli, additional, Secches, Tania Vertemati, additional, Kok, Fernando, additional, Schultz-Rogers, Laura E., additional, Macke, Erica L., additional, Morava, Eva, additional, Klee, Eric W., additional, Kemppainen, Jennifer, additional, Iascone, Maria, additional, Selicorni, Angelo, additional, Tenconi, Romano, additional, Amor, David J., additional, Pais, Lynn, additional, Gallacher, Lyndon, additional, Turnpenny, Peter D., additional, Stals, Karen, additional, Ellard, Sian, additional, Cabet, Sara, additional, Lesca, Gaetan, additional, Pascal, Joset, additional, Steindl, Katharina, additional, Ravid, Sarit, additional, Weiss, Karin, additional, Castle, Alison M.R., additional, Carter, Melissa T., additional, Kalsner, Louisa, additional, de Vries, Bert B.A., additional, van Bon, Bregje W., additional, Wevers, Marijke R., additional, Pfundt, Rolph, additional, Stegmann, Alexander P.A., additional, Kerr, Bronwyn, additional, Kingston, Helen M., additional, Chandler, Kate E., additional, Sheehan, Willow, additional, Elias, Abdallah F., additional, Shinde, Deepali N., additional, Towne, Meghan C., additional, Robin, Nathaniel H., additional, Goodloe, Dana, additional, Vanderver, Adeline, additional, Sherbini, Omar, additional, Bluske, Krista, additional, Hagelstrom, R. Tanner, additional, Zanus, Caterina, additional, Faletra, Flavio, additional, Musante, Luciana, additional, Kurtz-Nelson, Evangeline C., additional, Earl, Rachel K., additional, Anderlid, Britt-Marie, additional, Morin, Gilles, additional, van Slegtenhorst, Marjon, additional, Diderich, Karin E.M., additional, Brooks, Alice S., additional, Gribnau, Joost, additional, Boers, Ruben G., additional, Finestra, Teresa Robert, additional, Carter, Lauren B., additional, Rauch, Anita, additional, Gasparini, Paolo, additional, Boycott, Kym M., additional, Barakat, Tahsin Stefan, additional, Graham, John M., additional, Faivre, Laurence, additional, Banka, Siddharth, additional, Wang, Tianyun, additional, Eichler, Evan E., additional, Priolo, Manuela, additional, Dallapiccola, Bruno, additional, Vissers, Lisenka E.L.M., additional, Sadikovic, Bekim, additional, Scott, Daryl A., additional, Holder, Jimmy Lloyd, additional, and Tartaglia, Marco, additional

Published
2021
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23. ‘We don’t know for sure’: discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations

Author

Medendorp, Niki M., primary, Hillen, Marij A., additional, van Maarschalkerweerd, Pomme E. A., additional, Aalfs, Cora M., additional, Ausems, Margreet G. E. M., additional, Verhoef, Senno, additional, van der Kolk, Lizet E., additional, Berger, Lieke P. V., additional, Wevers, Marijke R., additional, Wagner, Anja, additional, Caanen, Barbara A. H., additional, Stiggelbout, Anne M., additional, and Smets, Ellen M. A., additional

Published
2019
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24. Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

Author

Chau, Cindy, primary, van Doorn, Remco, additional, van Poppelen, Natasha M., additional, van der Stoep, Nienke, additional, Mensenkamp, Arjen R., additional, Sijmons, Rolf H., additional, van Paassen, Barbara W., additional, van den Ouweland, Ans M. W., additional, Naus, Nicole C., additional, van der Hout, Annemieke H., additional, Potjer, Thomas P., additional, Bleeker, Fonnet E., additional, Wevers, Marijke R., additional, van Hest, Liselotte P., additional, Jongmans, Marjolijn C. J., additional, Marinkovic, Marina, additional, Bleeker, Jaco C., additional, Jager, Martine J., additional, Luyten, Gregorius P. M., additional, and Nielsen, Maartje, additional

Published
2019
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25. Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: Design of a multicenter randomized clinical trial

Author

Valdimarsdottir Heiddis B, van der Luijt Rob B, Hogervorst Frans BL, Hahn Daniela EE, Bleiker Eveline MA, Verhoef Senno, Ausems Margreet GEM, Wevers Marijke R, van Hillegersberg Richard, Rutgers Emiel, and Aaronson Neil K

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background It has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a BRCA1 or BRCA2 gene mutation. Such women have an increased risk of developing a new primary breast and/or ovarian tumor, and may therefore opt for preventive surgery (e.g., bilateral mastectomy, oophorectomy). It is common practice to offer high-risk patients genetic counseling and DNA testing after their primary treatment, with genetic test results being available within 4-6 months. However, some non-commercial laboratories can currently generate test results within 3 to 6 weeks, and thus make it possible to provide rapid genetic counseling and testing (RGCT) prior to primary treatment. The aim of this study is to determine the effect of RGCT on treatment decisions and on psychosocial health. Methods/Design In this randomized controlled trial, 255 newly diagnosed breast cancer patients with at least a 10% risk of carrying a BRCA gene mutation are being recruited from 12 hospitals in the Netherlands. Participants are randomized in a 2:1 ratio to either a RGCT intervention group (the offer of RGCT directly following diagnosis with tests results available before surgical treatment) or to a usual care control group. The primary behavioral outcome is the uptake of direct bilateral mastectomy or delayed prophylactic contralateral mastectomy. Psychosocial outcomes include cancer risk perception, cancer-related worry and distress, health-related quality of life, decisional satisfaction and the perceived need for and use of additional decisional counseling and psychosocial support. Data are collected via medical chart audits and self-report questionnaires administered prior to randomization, and at 6 month and at 12 month follow-up. Discussion This trial will provide essential information on the impact of RGCT on the choice of primary surgical treatment among women with breast cancer with an increased risk of hereditary cancer. This study will also provide data on the psychosocial consequences of RGCT and of risk-reducing behavior. Trial registration The study is registered at the Netherlands Trial Register (NTR1493) and ClinicalTrials.gov (NCT00783822).

Published
2011
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26. Loss-of-function and missense variants in NSD2cause decreased methylation activity and are associated with a distinct developmental phenotype

Author

Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, van Ravenswaaij-Arts, Conny M.A., Shinawi, Marwan, Andrews, Marisa, Attie-Bitach, Tania, Maystadt, Isabelle, Belnap, Newell, Benoit, Valerie, Delplancq, Geoffroy, de Vries, Bert B.A., Grotto, Sarah, Lacombe, Didier, Larson, Austin, Mourmans, Jeroen, Õunap, Katrin, Petrilli, Giulia, Pfundt, Rolph, Ramsey, Keri, Blok, Lot Snijders, Tsatsaris, Vassilis, Vitobello, Antonio, Faivre, Laurence, Wheeler, Patricia G., Wevers, Marijke R., Wojcik, Monica, Zweier, Markus, Gozani, Or, and Rauch, Anita

Abstract

Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2pathogenic variants remains poorly understood.

Published
2021
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27. Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial

Author

Wevers, Marijke R., primary, Ausems, Margreet G.E.M., additional, Verhoef, Senno, additional, Bleiker, Eveline M.A., additional, Hahn, Daniela E.E., additional, Brouwer, Titia, additional, Hogervorst, Frans B.L., additional, van der Luijt, Rob B., additional, van Dalen, Thijs, additional, Theunissen, Evert B., additional, van Ooijen, Bart, additional, de Roos, Marnix A., additional, Borgstein, Paul J., additional, Vrouenraets, Bart C., additional, Vriens, Eline, additional, Bouma, Wim H., additional, Rijna, Herman, additional, Vente, Johannes P., additional, Kieffer, Jacobien M., additional, Valdimarsdottir,, Heiddis B., additional, Rutgers, Emiel J. Th., additional, Witkamp, Arjen J., additional, and Aaronson, Neil K., additional

Published
2016
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29. Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: Design of a multicenter randomized clinical trial

Author

Wevers, Marijke R, primary, Ausems, Margreet GEM, additional, Verhoef, Senno, additional, Bleiker, Eveline MA, additional, Hahn, Daniela EE, additional, Hogervorst, Frans BL, additional, van der Luijt, Rob B, additional, Valdimarsdottir, Heiddis B, additional, van Hillegersberg, Richard, additional, Rutgers, Emiel JTh, additional, and Aaronson, Neil K, additional

Published
2011
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30. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Author

Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P, Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, and Antoniou AC

Subjects
Humans, Female, Middle Aged, Adult, Prospective Studies, Risk Factors, Risk Assessment, Polymorphism, Single Nucleotide genetics, Breast Neoplasms genetics, Breast Neoplasms epidemiology, BRCA2 Protein genetics, BRCA1 Protein genetics, Heterozygote, Genetic Predisposition to Disease
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/)., Competing Interests: Competing interests: ACA and DFE are named creators of the BOADICEA model which has been licensed by Cambridge Enterprise (University of Cambridge). All the other authors declare no conflict of interest., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)

Published
2024
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31. Urinary incontinence more than 15 years after premenopausal risk-reducing salpingo-oophorectomy: a multicentre cross-sectional study.

Author

Terra L, Heemskerk-Gerritsen BAM, Beekman MJ, Engelhardt E, Mourits MJE, van Doorn HC, de Hullu JA, Mom CH, Slangen BFM, Gaarenstroom KN, van Beurden M, Roeters Van Lennep JE, van Dorst EBL, van der Kolk LE, Collée JM, Wevers MR, Ausems MGEM, van Engelen K, van de Beek I, Berger LPV, van Asperen CJ, Gomez Garcia EB, Maas AHEM, Hooning MJ, Steensma AB, and van Leeuwen FE

Subjects
Female, Humans, Salpingo-oophorectomy, BRCA1 Protein, Cross-Sectional Studies, Quality of Life, BRCA2 Protein, Ovariectomy, Urinary Incontinence etiology, Urinary Incontinence prevention & control, Ovarian Neoplasms
Abstract

Objective: To study the impact of premenopausal risk-reducing salpingo-oophorectomy (RRSO), compared with postmenopausal RRSO, on urinary incontinence (UI) ≥10 years later., Design: Cross-sectional study, nested in a nationwide cohort., Setting: Multicentre in the Netherlands., Population: 750 women (68% BRCA1/2 pathogenic variant carriers) who underwent either premenopausal RRSO (≤45 years, n = 496) or postmenopausal RRSO (≥54 years, n = 254). All participants were ≥55 years at the time of the study., Methods: Urinary incontinence was assessed by the urinary distress inventory-6 (UDI-6); a score ≥33.3 indicated symptomatic UI. The incontinence impact questionnaire short form (IIQ-SF) was used to assess the impact on women's health-related quality of life (HR-QoL). Differences between groups were analysed using regression analyses adjusting for current age and other confounders., Main Outcome Measures: Differences in UDI-6 scores and IIQ-SF scores between women with a premenopausal and a postmenopausal RRSO., Results: Women in the premenopausal RRSO group had slightly higher UDI-6 scores compared with women in the postmenopausal RRSO group (P = 0.053), and their risk of symptomatic UI was non-significantly increased (odds ratio [OR] 2.1, 95% confidence interval [95% CI] 0.93-4.78). A premenopausal RRSO was associated with a higher risk of stress UI (OR 3.5, 95% CI 1.2-10.0) but not with urge UI. The proportions of women with a significant impact of UI on HR-QoL were similar in the premenopausal and postmenopausal RRSO groups (10.4% and 13.0%, respectively; P = 0.46)., Conclusions: More than 15 years after premenopausal RRSO, there were no significant differences in overall symptomatic UI between women with a premenopausal and those with a postmenopausal RRSO., (© 2023 John Wiley & Sons Ltd.)

Published
2024
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32. 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 L, Lee Meeuw Kjoe PR, Agelink van Rentergem JA, Beekman MJ, Heemskerk-Gerritsen BAM, van Beurden M, Roeters van Lennep JE, van Doorn HC, de Hullu JA, Mourits MJE, van Dorst EBL, Mom CH, Slangen BFM, Gaarenstroom KN, van der Kolk LE, Collée JM, Wevers MR, Ausems MGEM, van Engelen K, van de Beek I, Berger LPV, van Asperen CJ, Gomez Garcia EB, Maas AHEM, Hooning MJ, van der Wall E, van Leeuwen FE, and Schagen SB

Subjects
Female, Humans, Middle Aged, BRCA1 Protein genetics, BRCA2 Protein genetics, Cognition, Cross-Sectional Studies, Genetic Predisposition to Disease, Ovariectomy, Prospective Studies, Adult, Ovarian Neoplasms genetics, Ovarian Neoplasms prevention & control, Salpingo-oophorectomy adverse effects
Abstract

Objective: To examine the effect of a premenopausal risk-reducing salpingo-oophorectomy (RRSO) in women at increased risk of ovarian cancer on objective and subjective cognition at least 10 years after RRSO., Design: A cross-sectional study with prospective follow-up, nested in a nationwide cohort., Setting: Multicentre in the Netherlands., Population or Sample: 641 women (66% BRCA1/2 pathogenic variant carriers) who underwent either a premenopausal RRSO ≤ age 45 (n = 436) or a postmenopausal RRSO ≥ age 54 (n = 205). All participants were older than 55 years at recruitment., Methods: Participants completed an online cognitive test battery and a questionnaire on subjective cognition. We used multivariable regression analyses, adjusting for age, education, breast cancer, hormone replacement therapy, cardiovascular risk factors and depression., Main Outcome Measures: The influence of RRSO on objective and subjective cognition of women with a premenopausal RRSO compared with women with a postmenopausal RRSO., Results: After adjustment, women with a premenopausal RRSO (mean time since RRSO 18.2 years) performed similarly on objective cognitive tests compared with women with a postmenopausal RRSO (mean time since RRSO 11.9 years). However, they more frequently reported problems with reasoning (odds ratio [OR] 1.8, 95% confidence interval [95% CI] 1.1-3.1) and multitasking (OR 1.9, 95% CI 1.1-3.4) than women with a postmenopausal RRSO. This difference between groups disappeared in an analysis restricted to women of comparable ages (60-70 years)., Conclusions: Reassuringly, approximately 18 years after RRSO, we found no association between premenopausal RRSO and objective cognition., (© 2023 John Wiley & Sons Ltd.)

Published
2023
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