Search

Your search keyword '"van Asperen, Christi J"' showing total 726 results
Start Over Author "van Asperen, Christi J"
726 results on '"van Asperen, Christi J"'

1. 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
Full Text
View/download PDF

2. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Stommel-Jenner, D.J., de Groot, R., Vieveen, E., Collée, J.M., Geurts-Giele, W., Heemskerk-Gerritsen, B.A.M., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., Wevers, M.R., Mensenkamp, A.R., de Hullu, J.A., Ausems, M.G.E.M., Koudijs, M.J., Koole, W., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., Berger, L.P.V., van der Hout, A.H., de Bock, G.H., Yigit, R., Siesling, S., Verloop, J., Voorham, Q.J.M., Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, Arjen R., Adank, Muriel A., and Hooning, Maartje J.

Published
2024
Full Text
View/download PDF

4. 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
Full Text
View/download PDF

5. Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction

Author

Tüchler, Anja, De Pauw, Antoine, Ernst, Corinna, Anota, Amélie, Lakeman, Inge M.M., Dick, Julia, van der Stoep, Nienke, van Asperen, Christi J., Maringa, Monika, Herold, Natalie, Blümcke, Britta, Remy, Robert, Westerhoff, Anke, Stommel-Jenner, Denise J., Frouin, Eléonore, Richters, Lisa, Golmard, Lisa, Kütting, Nadine, Colas, Chrystelle, Wappenschmidt, Barbara, Rhiem, Kerstin, Devilee, Peter, Stoppa-Lyonnet, Dominique, Schmutzler, Rita K., and Hahnen, Eric

Published
2024
Full Text
View/download PDF

6. Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas

Author

Terlouw, Diantha, Bajwa-ten Broeke, Sanne W., Rodríguez-Girondo, Mar, van Egmond, Demi, Langers, Alexandra M.J., van Leerdam, Monique E., Rayner, Emily, van Asperen, Christi J., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bleeker, Fonnet E., Gomez Garcìa, Encarna B., Suerink, Manon, Tops, Carli M., de Wind, Niels, Helderman, Noah c., Van Der Werf-’T Lam, Anne-Sophie, Morreau, Hans, Boot, Arnoud, Van Wezel, Tom, and Nielsen, Maartje

Published
2023
Full Text
View/download PDF

8. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Author

Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, González-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dennis, Joe, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., and Easton, Douglas F.

Published
2022
Full Text
View/download PDF

10. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Author

Colombo, Mara, Lòpez-Perolio, Irene, Meeks, Huong D, Caleca, Laura, Parsons, Michael T, Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B Gómez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y, Varesco, Liliana, Wappenschmidt, Barbara, Bolla, Manjeet K, Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Beeghly-Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Chang-Claude, Jenny, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, García-Closas, Montserrat, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L, Jakubowska, Anna, Jung, Audrey, Kosma, Veli-Matti, Lambrechts, Diether, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Peterlongo, Paolo, Peto, Julian, Pylkäs, Katri, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, See, Mee Hoong, Southey, Melissa C, Swerdlow, Anthony, Teo, Soo H, Toland, Amanda E, Tomlinson, Ian, Truong, Thérèse, van Asperen, Christi J, van den Ouweland, Ans MW, van der Kolk, Lizet E, Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, kConFab/AOCS Investigators, Dunning, Alison M, and Easton, Douglas F

Subjects
kConFab/AOCS Investigators, Cell Line, Humans, Genetic Predisposition to Disease, Mitomycin, BRCA2 Protein, RNA, Messenger, Calibration, RNA Splicing, Base Sequence, Exons, Models, Genetic, Female, Genetic Variation, BRCA2, digital PCR, multifactorial likelihood analysis, quantitative real-time PCR, spliceogenic variants, RNA, Messenger, Models, Genetic, Genetics & Heredity, Genetics, Clinical Sciences
Abstract

Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3. In addition, the combined odds ratio for causality of the variant was estimated using genetic and clinical data, and its associated cancer risk was estimated by case-control analysis in 83,636 individuals. Co-occurrence in trans with pathogenic BRCA2 variants was assessed in 5,382 families. Exon 3 exclusion rate was 4.5-fold higher in variant carriers (13%) than controls (3%), indicating an exclusion rate for the c.68-7T > A allele of approximately 20%. The posterior probability of pathogenicity was 7.44 × 10-115 . There was neither evidence for increased risk of breast cancer (OR 1.03; 95% CI 0.86-1.24) nor for a deleterious effect of the variant when co-occurring with pathogenic variants. Our data provide for the first time robust evidence of the nonpathogenicity of the BRCA2 c.68-7T > A. Genetic and quantitative transcript analyses together inform the threshold for the ratio between functional and altered BRCA2 isoforms compatible with normal cell function. These findings might be exploited to assess the relevance for cancer risk of other BRCA2 spliceogenic variants.

Published
2018

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

Author

MS Gynaecologische Oncologie, Cancer, Genetica, Genetica Klinische Genetica, 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, investigators, de Bock, Geertruida H., Mourits, Marian J.E., MS Gynaecologische Oncologie, Cancer, Genetica, Genetica Klinische Genetica, 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, investigators, de Bock, Geertruida H., and Mourits, Marian J.E.

Published
2024

12. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

Genetica Klinische Genetica, Cancer, Afdeling Dietetiek, Hubrecht Institute with UMC, Genetica Sectie Genoomdiagnostiek, MS CGO, Epi Kanker Team A, Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, M. A., Hooning, M. J., The Hereditary Breast and Ovarian Cancer Research Group Netherlands, Genetica Klinische Genetica, Cancer, Afdeling Dietetiek, Hubrecht Institute with UMC, Genetica Sectie Genoomdiagnostiek, MS CGO, Epi Kanker Team A, Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, M. A., Hooning, M. J., and The Hereditary Breast and Ovarian Cancer Research Group Netherlands

Published
2024

13. 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

14. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

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

Abstract

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

Published
2024

15. 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

16. 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
Full Text
View/download PDF

17. 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
Full Text
View/download PDF

18. 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
Full Text
View/download PDF

19. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

Author

Suerink, Manon, Rodríguez-Girondo, Mar, van der Klift, Heleen M., Colas, Chrystelle, Brugieres, Laurence, Lavoine, Noémie, Jongmans, Marjolijn, Munar, Gabriel Capellá, Evans, D. Gareth, Farrell, Michael P., Genuardi, Maurizio, Goldberg, Yael, Gomez-Garcia, Encarna, Heinimann, Karl, Hoell, Jessica I., Aretz, Stefan, Jasperson, Kory W., Kedar, Inbal, Modi, Mitul B., Nikolaev, Sergey, van Os, Theo A. M., Ripperger, Tim, Rueda, Daniel, Senter, Leigha, Sjursen, Wenche, Sunde, Lone, Therkildsen, Christina, Tibiletti, Maria G., Trainer, Alison H., Vos, Yvonne J., Wagner, Anja, Winship, Ingrid, Wimmer, Katharina, Zimmermann, Stefanie Y., Vasen, Hans F., van Asperen, Christi J., Houwing-Duistermaat, Jeanine J., ten Broeke, Sanne W., and Nielsen, Maartje

Published
2019
Full Text
View/download PDF

20. Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction

Author

Tüchler, Anja, primary, De Pauw, Antoine, additional, Ernst, Corinna, additional, Anota, Amélie, additional, Lakeman, Inge M.M., additional, Dick, Julia, additional, van der Stoep, Nienke, additional, van Asperen, Christi J., additional, Maringa, Monika, additional, Herold, Natalie, additional, Blümcke, Britta, additional, Remy, Robert, additional, Westerhoff, Anke, additional, Stommel-Jenner, Denise J., additional, Frouin, Eléonore, additional, Richters, Lisa, additional, Golmard, Lisa, additional, Kütting, Nadine, additional, Colas, Chrystelle, additional, Wappenschmidt, Barbara, additional, Rhiem, Kerstin, additional, Devilee, Peter, additional, Stoppa-Lyonnet, Dominique, additional, Schmutzler, Rita K., additional, and Hahnen, Eric, additional

Published
2023
Full Text
View/download PDF

21. 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
Full Text
View/download PDF

22. A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Author

Drost, Mark, Tiersma, Yvonne, Thompson, Bryony A., Frederiksen, Jane H., Keijzers, Guido, Glubb, Dylan, Kathe, Scott, Osinga, Jan, Westers, Helga, Pappas, Lisa, Boucher, Kenneth M., Molenkamp, Siska, Zonneveld, José B., van Asperen, Christi J., Goldgar, David E., Wallace, Susan S., Sijmons, Rolf H., Spurdle, Amanda B., Rasmussen, Lene J., Greenblatt, Marc S., de Wind, Niels, and Tavtigian, Sean V.

Published
2019
Full Text
View/download PDF

24. Genome-wide association study of germline variants and breast cancer-specific mortality

Author

Escala-Garcia, Maria, Guo, Qi, Dörk, Thilo, Canisius, Sander, Keeman, Renske, Dennis, Joe, Beesley, Jonathan, Lecarpentier, Julie, Bolla, Manjeet K., Wang, Qin, Abraham, Jean, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Boeckx, Bram, Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brentnall, Adam, Brinton, Louise, Broberg, Per, Brock, Ian W., Brucker, Sara Y., Burwinkel, Barbara, Caldas, Carlos, Caldés, Trinidad, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Cheng, Ting-Yuan David, Chin, Suet-Feung, Clarke, Christine L., NBCS Collaborators, Cordina-Duverger, Emilie, Couch, Fergus J., Cox, David G., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dunn, Janet A., Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Earl, Helena M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Galle, Eva, Gapstur, Susan M., García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., George, Angela, Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldgar, David E., González-Neira, Anna, Alnæs, Grethe I. Grenaker, Grip, Mervi, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan, Harkness, Elaine F., Harrington, Patricia A., Hart, Steven N., Hartikainen, Jaana M., Hein, Alexander, Hillemanns, Peter, Hiller, Louise, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huang, Guanmengqian, Humphreys, Keith, Hunter, David J., Janni, Wolfgang, John, Esther M., Jones, Michael E., Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kitahara, Cari M., Knight, Julia A., Ko, Yon-Dschun, Koppert, Linetta B., Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N., Krüger, Ute, Kühl, Tabea, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lejbkowicz, Flavio, Li, Lian, Lindblom, Annika, Lindström, Sara, Linet, Martha, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Lubiński, Jan, Lux, Michael P., MacInnis, Robert J., Maierthaler, Melanie, Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Middha, Pooja, Miller, Nicola, Milne, Roger L., Moreno, Fernando, Mulligan, Anna Marie, Mulot, Claire, Nassir, Rami, Neuhausen, Susan L., Newman, William T., Nielsen, Sune F., Nordestgaard, Børge G., Norman, Aaron, Olsson, Håkan, Orr, Nick, Pankratz, V. Shane, Park-Simon, Tjoung-Won, Perez, Jose I. A., Pérez-Barrios, Clara, Peterlongo, Paolo, Petridis, Christos, Pinchev, Mila, Prajzendanc, Karoliona, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Roylance, Rebecca, Saloustros, Emmanouil, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schwentner, Lukas, Scott, Rodney J., Scott, Christopher, Seynaeve, Caroline, Shah, Mitul, Simard, Jacques, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Swerdlow, Anthony J., Talhouk, Aline, Tamimi, Rulla M., Tapper, William J., Teixeira, Manuel R., Tengström, Maria, Terry, Mary Beth, Thöne, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Turman, Constance, Turnbull, Clare, Ulmer, Hans-Ulrich, Untch, Michael, Vachon, Celine, van Asperen, Christi J., van den Ouweland, Ans M. W., van Veen, Elke M., Wendt, Camilla, Whittemore, Alice S., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zhang, Yan, Easton, Douglas F., Fasching, Peter A., Nevanlinna, Heli, Eccles, Diana M., Pharoah, Paul D. P., and Schmidt, Marjanka K.

Published
2019
Full Text
View/download PDF

26. 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
Full Text
View/download PDF

27. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Author

Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, GENICA Network, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert AEM, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, kConFab, AOCS Study Group, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, SWE-BRCA, Loman, Niklas, Karlsson, Per, and Stenmark Askmalm, Marie

Subjects
GENICA Network, kConFab, AOCS Study Group, SWE-BRCA, HEBON, EMBRACE, BCAC/CIMBA, Chromosomes, Human, Pair 6, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Receptors, Estrogen, Confidence Intervals, Proportional Hazards Models, Odds Ratio, Risk Factors, Heterozygote, Polymorphism, Single Nucleotide, Alleles, Middle Aged, Female, Genetic Association Studies, Chromosomes, Human, Pair 6, Polymorphism, Single Nucleotide, Receptors, Estrogen, General Science & Technology
Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

Published
2012

28. 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
Full Text
View/download PDF

29. Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas

Author

Helderman, Noah c., primary, Van Der Werf-’T Lam, Anne-Sophie, additional, Morreau, Hans, additional, Boot, Arnoud, additional, Van Wezel, Tom, additional, Nielsen, Maartje, additional, Terlouw, Diantha, additional, Bajwa-ten Broeke, Sanne W., additional, Rodríguez-Girondo, Mar, additional, van Egmond, Demi, additional, Langers, Alexandra M.J., additional, van Leerdam, Monique E., additional, Rayner, Emily, additional, van Asperen, Christi J., additional, van Hest, Liselotte P., additional, Gille, Hans J.P., additional, Duijkers, Floor A.M., additional, Wagner, Anja, additional, Eikenboom, Ellis L., additional, Letteboer, Tom G.W., additional, de Jong, Mirjam M., additional, Bleeker, Fonnet E., additional, Gomez Garcìa, Encarna B., additional, Suerink, Manon, additional, Tops, Carli M., additional, and de Wind, Niels, additional

Published
2023
Full Text
View/download PDF

30. Pathological characterisation of male breast cancer: Results of the EORTC 10085/TBCRC/BIG/NABCG International Male Breast Cancer Program

Author

Vermeulen, Marijn A., Slaets, Leen, Cardoso, Fatima, Giordano, Sharon H., Tryfonidis, Konstantinos, van Diest, Paul J., Dijkstra, Nizet H., Schröder, Carolien P., van Asperen, Christi J., Linderholm, Barbro, Benstead, Kim, Foekens, Renee, Martens, John W.M., Bartlett, John M.S., and van Deurzen, Carolien H.M.

Published
2017
Full Text
View/download PDF

32. Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

Author

Derks-Smeets, Inge A. P., Schrijver, Lieske H., de Die-Smulders, Christine E. M., Tjan-Heijnen, Vivianne C. G., van Golde, Ron J. T., Smits, Luc J., Caanen, Beppy, van Asperen, Christi J., Ausems, Margreet, Collée, Margriet, van Engelen, Klaartje, Kets, C. Marleen, van der Kolk, Lizet, Oosterwijk, Jan C., van Os, Theo A. M., HEBON, Rookus, Matti A., van Leeuwen, Flora E., and Gómez García, Encarna B.

Published
2018
Full Text
View/download PDF

33. Supplementary Table S2 from Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

Author

de Jonge, Marthe M., primary, Ritterhouse, Lauren L., primary, de Kroon, Cornelis D., primary, Vreeswijk, Maaike P.G., primary, Segal, Jeremy P., primary, Puranik, Rutika, primary, Hollema, Harry, primary, Rookus, Matti A., primary, van Asperen, Christi J., primary, van Leeuwen, Flora E., primary, Smit, Vincent T.H.B.M., primary, Howitt, Brooke E., primary, and Bosse, Tjalling, primary

Published
2023
Full Text
View/download PDF

34. Supplementary Tables and References from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary

Published
2023
Full Text
View/download PDF

35. Data from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author

Vos, Janet R., primary, Teixeira, Natalia, primary, van der Kolk, Dorina M., primary, Mourits, Marian J.E., primary, Rookus, Matti A., primary, van Leeuwen, Flora E., primary, Collée, Margriet, primary, van Asperen, Christi J., primary, Mensenkamp, Arjen R., primary, Ausems, Margreet G.E.M., primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, Gómez-Garcia, Encarna B., primary, Vasen, Hans F., primary, Brohet, Richard M., primary, van der Hout, Annemarie H., primary, Jansen, Liesbeth, primary, Oosterwijk, Jan C., primary, and de Bock, Geertruida H., primary

Published
2023
Full Text
View/download PDF

36. Supplementary Fig. S1 from Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

Author

de Jonge, Marthe M., primary, Ritterhouse, Lauren L., primary, de Kroon, Cornelis D., primary, Vreeswijk, Maaike P.G., primary, Segal, Jeremy P., primary, Puranik, Rutika, primary, Hollema, Harry, primary, Rookus, Matti A., primary, van Asperen, Christi J., primary, van Leeuwen, Flora E., primary, Smit, Vincent T.H.B.M., primary, Howitt, Brooke E., primary, and Bosse, Tjalling, primary

Published
2023
Full Text
View/download PDF

37. Supplementary Tables 1 through 5 from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author

Vos, Janet R., primary, Teixeira, Natalia, primary, van der Kolk, Dorina M., primary, Mourits, Marian J.E., primary, Rookus, Matti A., primary, van Leeuwen, Flora E., primary, Collée, Margriet, primary, van Asperen, Christi J., primary, Mensenkamp, Arjen R., primary, Ausems, Margreet G.E.M., primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, Gómez-Garcia, Encarna B., primary, Vasen, Hans F., primary, Brohet, Richard M., primary, van der Hout, Annemarie H., primary, Jansen, Liesbeth, primary, Oosterwijk, Jan C., primary, and de Bock, Geertruida H., primary

Published
2023
Full Text
View/download PDF

38. Data from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary

Published
2023
Full Text
View/download PDF

39. Supplementary Material and Methods from Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

Author

de Jonge, Marthe M., primary, Ritterhouse, Lauren L., primary, de Kroon, Cornelis D., primary, Vreeswijk, Maaike P.G., primary, Segal, Jeremy P., primary, Puranik, Rutika, primary, Hollema, Harry, primary, Rookus, Matti A., primary, van Asperen, Christi J., primary, van Leeuwen, Flora E., primary, Smit, Vincent T.H.B.M., primary, Howitt, Brooke E., primary, and Bosse, Tjalling, primary

Published
2023
Full Text
View/download PDF

40. Supplementary Table S1 from Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Author

Vos, Janet R., primary, Oosterwijk, Jan C., primary, Aalfs, Cora M., primary, Rookus, Matti A., primary, Adank, Muriel A., primary, van der Hout, Annemarie H., primary, van Asperen, Christi J., primary, Gómez Garcia, Encarna B., primary, Mensenkamp, Arjen R., primary, Jager, Agnes, primary, Ausems, Margreet G.E.M., primary, Mourits, Marian J., primary, and de Bock, Geertruida H., primary

Published
2023
Full Text
View/download PDF

41. Supplementary Figures from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author

Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary

Published
2023
Full Text
View/download PDF

42. Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas

Author

Helderman, Noah c., Van Der Werf-’T Lam, Anne Sophie, Terlouw, Diantha, Bajwa-ten Broeke, Sanne W., Rodríguez-Girondo, Mar, van Egmond, Demi, Langers, Alexandra M.J., van Leerdam, Monique E., Rayner, Emily, van Asperen, Christi J., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bleeker, Fonnet E., Gomez Garcìa, Encarna B., Suerink, Manon, Tops, Carli M., de Wind, Niels, Morreau, Hans, Boot, Arnoud, Van Wezel, Tom, Nielsen, Maartje, Helderman, Noah c., Van Der Werf-’T Lam, Anne Sophie, Terlouw, Diantha, Bajwa-ten Broeke, Sanne W., Rodríguez-Girondo, Mar, van Egmond, Demi, Langers, Alexandra M.J., van Leerdam, Monique E., Rayner, Emily, van Asperen, Christi J., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bleeker, Fonnet E., Gomez Garcìa, Encarna B., Suerink, Manon, Tops, Carli M., de Wind, Niels, Morreau, Hans, Boot, Arnoud, Van Wezel, Tom, and Nielsen, Maartje

Published
2023

43. 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

44. 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

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

Author

Genetica Klinische Genetica, Cancer, Lakeman, Inge M.M., Rodríguez-Girondo, Mar D.M., Lee, Andrew, Celosse, Nandi, Braspenning, Merel E., Van Engelen, Klaartje, Van De Beek, Irma, Van Der Hout, Annemiek H., Gómez García, Encarna B., 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, Genetica Klinische Genetica, Cancer, Lakeman, Inge M.M., Rodríguez-Girondo, Mar D.M., Lee, Andrew, Celosse, Nandi, Braspenning, Merel E., Van Engelen, Klaartje, Van De Beek, Irma, Van Der Hout, Annemiek H., Gómez García, Encarna B., 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

Published
2023

46. 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

MS Gynaecologische Oncologie, Cancer, Genetica Klinische Genetica, Staf strategisch beleid, Medisch Oncologische Disciplines, Speerpunt Cancer, Terra, Lara, Lee Meeuw Kjoe, Philippe R., Agelink van Rentergem, Joost A., Beekman, Maarten J., Heemskerk-Gerritsen, Bernadette A.M., van Beurden, Marc, Roeters van Lennep, Jeanine E., van Doorn, Helena C., de Hullu, Joanna A., Mourits, Marian J.E., 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., van der Wall, Elsken, van Leeuwen, Flora E., Schagen, Sanne B., MS Gynaecologische Oncologie, Cancer, Genetica Klinische Genetica, Staf strategisch beleid, Medisch Oncologische Disciplines, Speerpunt Cancer, Terra, Lara, Lee Meeuw Kjoe, Philippe R., Agelink van Rentergem, Joost A., Beekman, Maarten J., Heemskerk-Gerritsen, Bernadette A.M., van Beurden, Marc, Roeters van Lennep, Jeanine E., van Doorn, Helena C., de Hullu, Joanna A., Mourits, Marian J.E., 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., van der Wall, Elsken, van Leeuwen, Flora E., and Schagen, Sanne B.

Published
2023

47. 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

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

Author

Lakeman, Inge MM, Rodríguez-Girondo, Mar DM, Lee, Andrew, Celosse, Nandi, Braspenning, Merel E, Van Engelen, Klaartje, Van De Beek, Irma, Van Der Hout, Annemiek H, Gómez García, Encarna B, Mensenkamp, Arjen R, Ausems, Margreet GEM, Hooning, Maartje J, Adank, Muriel A, Hollestelle, Antoinette, Schmidt, Marjanka K, Van Asperen, Christi J, Devilee, Peter, Human genetics, Cancer Center Amsterdam, Medical Oncology, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Lakeman, Inge MM [0000-0002-2990-7154], Lee, Andrew [0000-0003-0677-0252], Mensenkamp, Arjen R [0000-0003-3805-877X], Devilee, Peter [0000-0002-8023-2009], and Apollo - University of Cambridge Repository

Subjects
Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Polymorphism, Genetic, MODELS, LOCI, WOMEN, Breast Neoplasms, VARIANTS, Medical Oncology, Risk Assessment, PANEL, SDG 3 - Good Health and Well-being, Genetic, Risk Factors, Genetics, Humans, Female, Genetic Predisposition to Disease, Polymorphism, Cancer genetics, Genetics (clinical), Retrospective Studies
Abstract

Peer reviewed: True, Acknowledgements: We would like to thank Mary Velthuizen (University Medical Center Utrecht), J Margriet Collée (Erasmus Medical Center Rotterdam), Wendy Prager-van den Smissen (Erasmus Medical Center Rotterdam), Daoud Ait Moha (The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital), Jan C Oosterwijk (University Medical Center Groningen), Janet R Vos (Radboud University Medical Center), Jeroen FJ Laros (Leiden University Medical Center) and Adri JM Krol (Leiden University Medical Center) for collecting and converting the pedigree files of the included families., 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

50. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Author

Ferreira, Manuel A., Gamazon, Eric R., Al-Ejeh, Fares, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmaña, Judith, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldés, Trinidad, Caligo, Maria A., Campa, Daniele, Campbell, Ian, Canzian, Federico, Carter, Jonathan, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., EMBRACE Collaborators, GC-HBOC Study Collaborators, GEMO Study Collaborators, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, He, Wei, Heyworth, Jane, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Hulick, Peter J., Humphreys, Keith, Imyanitov, Evgeny N., ABCTB Investigators, HEBON Investigators, BCFR Investigators, Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Jones, Michael E., Konstantopoulou, Irene, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindström, Sara, Long, Jirong, Loud, Jennifer T., Lubiński, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C., Nikitina-Zake, Liene, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olsson, Håkan, Osorio, Ana, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Peterlongo, Paolo, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Saloustros, Emmanouil, Sanden, Kristin, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, Mary Beth, Teulé, Alex, Thomassen, Mads, Thöne, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Thérèse, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter, Antoniou, Antonis C., Zheng, Wei, Easton, Douglas F., Milne, Roger L., Beesley, Jonathan, and Chenevix-Trench, Georgia

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results