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

Author

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

Published
2021
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4. Supplementary Tables 1-4 from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary

Published
2023
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5. Data from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary

Published
2023
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6. TUBectomy with delayed oophorectomy as an alternative to risk-reducing salpingo-oophorectomy in high-risk women to assess the safety of prevention: the TUBA-WISP II study protocol

Author

Steenbeek, Miranda P, van Bommel, Majke H D, intHout, Joanna, Peterson, Christine B, Simons, Michiel, Roes, Kit C B, Kets, Marleen, Norquist, Barbara M, Swisher, Elizabeth M, Hermens, Rosella P M G, Lu, Karen H, de Hullu, Joanne A, Fruscio, Robert, Steenbeek, M, van Bommel, M, Inthout, J, Peterson, C, Simons, M, Roes, K, Kets, M, Norquist, B, Swisher, E, Hermens, R, Lu, K, de Hullu, J, and Fruscio, R

Subjects
BRCA2 Protein, BRCA1 Protein, Gynecologic Surgical Procedure, Carcinoma, Ovarian Cancer
Abstract

Background: Risk-reducing salpingectomy with delayed oophorectomy has gained interest for individuals at high risk for tubo-ovarian cancer as there is compelling evidence that especially high-grade serous carcinoma originates in the fallopian tubes. Two studies have demonstrated a positive effect of salpingectomy on menopause-related quality of life and sexual health compared with standard risk-reducing salpingo-oophorectomy. Primary Objective: To investigate whether salpingectomy with delayed oophorectomy is non-inferior to the current standard salpingo-oophorectomy for the prevention of tubo-ovarian cancer among individuals at high inherited risk. Study Hypothesis: We hypothesize that postponement of oophorectomy after salpingectomy, to the age of 40-45 (BRCA1) or 45-50 (BRCA2) years, compared with the current standard salpingo-oophorectomy at age 35-40 (BRCA1) or 40-45 (BRCA2) years, is non-inferior in regard to tubo-ovarian cancer risk. Trial Design: In this international prospective preference trial, participants will choose between the novel salpingectomy with delayed oophorectomy and the current standard salpingo-oophorectomy. Salpingectomy can be performed after the completion of childbearing and between the age of 25 and 40 (BRCA1), 25 and 45 (BRCA2), or 25 and 50 (BRIP1, RAD51C, and RAD51D pathogenic variant carriers) years. Subsequent oophorectomy is recommended at a maximum delay of 5 years beyond the upper limit of the current guideline age for salpingo-oophorectomy. The current National Comprehensive Cancer Network (NCCN) guideline age, which is also the recommended age for salpingo-oophorectomy within the study, is 35-40 years for BRCA1, 40-45 years for BRCA2, and 45-50 years for BRIP1, RAD51C, and RAD51D pathogenic variant carriers. Major Inclusion/Exclusion Criteria: Premenopausal individuals with a documented class IV or V germline pathogenic variant in the BRCA1, BRCA2, BRIP1, RAD51C, or RAD51D gene who have completed childbearing are eligible for participation. Participants may have a personal history of a non-ovarian malignancy. Primary Endpoint: The primary outcome is the cumulative tubo-ovarian cancer incidence at the target age: 46 years for BRCA1 and 51 years for BRCA2 pathogenic variant carriers. Sample size: The sample size to ensure sufficient power to test non-inferiority of salpingectomy with delayed oophorectomy compared with salpingo-oophorectomy requires 1500 BRCA1 and 1500 BRCA2 pathogenic variant carriers. Estimated Dates for Completing Accrual and Presenting Results: Participant recruitment is expected to be completed at the end of 2026 (total recruitment period of 5 years). The primary outcome is expected to be available in 2036 (minimal follow-up period of 10 years).

Published
2023

9. First results of the PROMPT trial: Precision oncology allocation in patients with early castration-resistant prostate cancer following routine molecular profiling.

Author

Kloots, Iris S. H., primary, Slootbeek, Peter H.J., additional, Smits, Minke, additional, van Helvert, Sjoerd, additional, Kroeze, Leonie I., additional, Kets, Marleen, additional, Grünberg, Katrien, additional, van Ipenburg, Jolique, additional, Ligtenberg, Marjolijn, additional, Schalken, Jack A., additional, van Oort, Inge M., additional, Bloemendal, Haiko, additional, Gerritsen, Winald R., additional, and Mehra, Niven, additional

Published
2022
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10. Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development

Author

Weren, Robbert DA, Venkatachalam, Ramprasath, Cazier, Jean-Baptiste, Farin, Henner F, Kets, Marleen C, de Voer, Richarda M, Vreede, Lilian, Verwiel, Eugène TP, van Asseldonk, Monique, Kamping, Eveline J, Kiemeney, Lambertus A, Neveling, Kornelia, Aben, Katja KH, Carvajal-Carmona, Luis, Nagtegaal, Iris D, Schackert, Hans K, Clevers, Hans, van de Wetering, Marc, Tomlinson, Ian P, Ligtenberg, Marjolijn JL, Hoogerbrugge, Nicoline, van Kessel, Ad Geurts, and Kuiper, Roland P

Published
2015
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11. Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: A prospective analysis

Author

A.M. Heemskerk-Gerritsen, Bernadette, Rookus, Matti A., Aalfs, Cora M., Ausems, Margreet G.E.M., Collée, Johanna M., Jansen, Liesbeth, Kets, Marleen C., Keymeulen, Kristien B.M.I., Koppert, Linetta B., Meijers-Heijboer, Hanne E.J., Mooij, Thea M., Tollenaar, Rob A.E.M., Vasen, Hans F.A., HEBON, Hooning, Maartje J., and Seynaeve, Caroline

Published
2015
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12. Guidelines for the Li–Fraumeni and heritable TP53 -related cancer syndromes

Author

Bajalica Lagercrantz, Svetlana, Oliveira, Carla, Magenheim, Rita, Evans, D. Gareth, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn, Kets, Marleen, Oostenbrink, Rianne, Sijmons, Rolf, Evans, Gareth, Woodward, Emma, Tischkowitz, Marc, Maher, Eamonn, Ferner, Rosalie E., Aretz, Stefan, Spier, Isabel, Steinke-Lange, Verena, Holinski-Feder, Elke, Schröck, Evelin, Frebourg, Thierry, Houdayer, Claude, Colas, Chrystelle, Wolkenstein, Pierre, Bours, Vincent, Legius, Eric, Poppe, Bruce, Claes, Kathleen, De Putter, Robin, Guillermo, Ignacio Blanco, Capella, Gabriel, Vidal, Joan Brunet, Lázaro, Conxi, Balmaña, Judith, Hernandez, Hector Salvador, Teixeira, Manuel, Bajalica-Lagercrantz, Svetlana, Tham, Emma, Lubinski, Jan, Ertmanska, Karolina, Melegh, Bela, Krajc, Mateja, Blatnik, Ana, Peltonen, Sirkku, Hietala, Marja, Evans, D. Gareth [0000-0002-8482-5784], and Apollo - University of Cambridge Repository

Subjects
631/67/2322, article, 692/499
Abstract

Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher cancer risk) and on modifying factors; (iv) whole-body MRI (WBMRI) allows early detection of tumours in variant carriers and (v) in cancer patients with germline disease-causing TP53 variants, radiotherapy, and conventional genotoxic chemotherapy contribute to the development of subsequent primary tumours. It is critical to perform TP53 testing before the initiation of treatment in order to avoid in carriers, if possible, radiotherapy and genotoxic chemotherapies. In children, the recommendations are to perform clinical examination and abdominal ultrasound every 6 months, annual WBMRI and brain MRI from the first year of life, if the TP53 variant is known to be associated with childhood cancers. In adults, the surveillance should include every year clinical examination, WBMRI, breast MRI in females from 20 until 65 years and brain MRI until 50 years.

Published
2021
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13. Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Author

Colas, Chrystelle, Pouwels, Sjaak, Hoogerbrugge, Nicoline, Bisseling, Tanya, Bubien, Virginie, Caux, Frederic, Chabbert-Buffet, Nathalie, Da Mota Gomes, Sophie, Gotthardt, Martin, Kets, Marleen, Lachlan, Katherine L., Links, Thera P., Longy, Michel, Mann, Ritse, Kool, Leo Schultze, Semple, Robert K., Stock, Ian, Tischkowitz, Marc, Vos, Janet, Ligtenberg, Marjolijn, Oostenbrink, Rianne, Sijmons, Rolf, Evans, Gareth, Woodward, Emma, Maher, Eamonn, Ferner, Rosalie E., Aretz, Stefan, Spier, Isabel, Steinke-Lange, Verena, Holinski-Feder, Elke, Schröck, Evelin, Frebourg, Thierry, Houdayer, Claude, Wolkenstein, Pierre, Bours, Vincent, Legius, Eric, Poppe, Bruce, Claes, Kathleen, De Putter, Robin, Guillermo, Ignacio Blanco, Capella, Gabriel, Vidal, Joan Brunet, Lázaro, Conxi, Balmaña, Judith, Hernandez, Hector Salvador, Oliveira, Carla, Teixeira, Manuel, Bajalica-Lagercrantz, Svetlana, Tham, Emma, Lubinski, Jan, Ertmanska, Karolina, Melegh, Bela, Krajc, Mateja, Blatnik, Ana, Peltonen, Sirkku, Hietala, Marja, Tischkowitz, Marc [0000-0002-7880-0628], and Apollo - University of Cambridge Repository

Subjects
692/700/459/1748, article, 692/699/67/68
Abstract

PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.

Published
2020

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

Author

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

Published
2020
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15. Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases

Author

Ten Broek, Roel W., primary, Eijkelenboom, Astrid, additional, Vleuten, Carine J. M., additional, Kamping, Eveline J., additional, Kets, Marleen, additional, Verhoeven, Bas H., additional, Grünberg, Katrien, additional, Schultze Kool, Leo J., additional, Tops, Bastiaan B. J., additional, Ligtenberg, Marjolijn J. L., additional, and Flucke, Uta, additional

Published
2019
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17. Efficacy of risk-reducing mastectomy (RRM) on overall survival (OS) in BRCA1/2-associated breast cancer (BC) patients.

Author

Heemskerk-Gerritsen, Bernadette Anna Maria, primary, Hooning, Maartje, additional, van Asperen, Christi J, additional, Ausems, Margreet GEM, additional, Collée, Margriet, additional, Jansen, Liesbeth, additional, Kets, Marleen, additional, Keymeulen, Kristien, additional, Meijers-Heijboer, Hanne EJ, additional, van Os, Theo AM, additional, Vasen, Hans FA, additional, Koppert, Linetta, additional, Rookus, Matti A., additional, and Seynaeve, Caroline, additional

Published
2013
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18. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Couch, Fergus J., primary, Gaudet, Mia M., additional, Antoniou, Antonis C., additional, Ramus, Susan J., additional, Kuchenbaecker, Karoline B., additional, Soucy, Penny, additional, Beesley, Jonathan, additional, Chen, Xiaoqing, additional, Wang, Xianshu, additional, Kirchhoff, Tomas, additional, McGuffog, Lesley, additional, Barrowdale, Daniel, additional, Lee, Andrew, additional, Healey, Sue, additional, Sinilnikova, Olga M., additional, Andrulis, Irene L., additional, Ozcelik, Hilmi, additional, Mulligan, Anna Marie, additional, Thomassen, Mads, additional, Gerdes, Anne-Marie, additional, Jensen, Uffe Birk, additional, Skytte, Anne-Bine, additional, Kruse, Torben A., additional, Caligo, Maria A., additional, von Wachenfeldt, Anna, additional, Barbany-Bustinza, Gisela, additional, Loman, Niklas, additional, Soller, Maria, additional, Ehrencrona, Hans, additional, Karlsson, Per, additional, Nathanson, Katherine L., additional, Rebbeck, Timothy R., additional, Domchek, Susan M., additional, Jakubowska, Ania, additional, Lubinski, Jan, additional, Jaworska, Katarzyna, additional, Durda, Katarzyna, additional, Złowocka, Elżbieta, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Gronwald, Jacek, additional, Cybulski, Cezary, additional, Górski, Bohdan, additional, Osorio, Ana, additional, Durán, Mercedes, additional, Tejada, María Isabel, additional, Benitez, Javier, additional, Hamann, Ute, additional, Hogervorst, Frans B.L., additional, van Os, Theo A., additional, van Leeuwen, Flora E., additional, Meijers-Heijboer, Hanne E.J., additional, Wijnen, Juul, additional, Blok, Marinus J., additional, Kets, Marleen, additional, Hooning, Maartje J., additional, Oldenburg, Rogier A., additional, Ausems, Margreet G.E.M., additional, Peock, Susan, additional, Frost, Debra, additional, Ellis, Steve D., additional, Platte, Radka, additional, Fineberg, Elena, additional, Evans, D. Gareth, additional, Jacobs, Chris, additional, Eeles, Rosalind A., additional, Adlard, Julian, additional, Davidson, Rosemarie, additional, Eccles, Diana M., additional, Cole, Trevor, additional, Cook, Jackie, additional, Paterson, Joan, additional, Brewer, Carole, additional, Douglas, Fiona, additional, Hodgson, Shirley V., additional, Morrison, Patrick J., additional, Walker, Lisa, additional, Porteous, Mary E., additional, Kennedy, M. John, additional, Side, Lucy E., additional, Bove, Betsy, additional, Godwin, Andrew K., additional, Stoppa-Lyonnet, Dominique, additional, Fassy-Colcombet, Marion, additional, Castera, Laurent, additional, Cornelis, François, additional, Mazoyer, Sylvie, additional, Léoné, Mélanie, additional, Boutry-Kryza, Nadia, additional, Bressac-de Paillerets, Brigitte, additional, Caron, Olivier, additional, Pujol, Pascal, additional, Coupier, Isabelle, additional, Delnatte, Capucine, additional, Akloul, Linda, additional, Lynch, Henry T., additional, Snyder, Carrie L., additional, Buys, Saundra S., additional, Daly, Mary B., additional, Terry, MaryBeth, additional, Chung, Wendy K., additional, John, Esther M., additional, Miron, Alexander, additional, Southey, Melissa C., additional, Hopper, John L., additional, Goldgar, David E., additional, Singer, Christian F., additional, Rappaport, Christine, additional, Tea, Muy-Kheng M., additional, Fink-Retter, Anneliese, additional, Hansen, Thomas V.O., additional, Nielsen, Finn C., additional, Arason, Aðalgeir, additional, Vijai, Joseph, additional, Shah, Sohela, additional, Sarrel, Kara, additional, Robson, Mark E., additional, Piedmonte, Marion, additional, Phillips, Kelly, additional, Basil, Jack, additional, Rubinstein, Wendy S., additional, Boggess, John, additional, Wakeley, Katie, additional, Ewart-Toland, Amanda, additional, Montagna, Marco, additional, Agata, Simona, additional, Imyanitov, Evgeny N., additional, Isaacs, Claudine, additional, Janavicius, Ramunas, additional, Lazaro, Conxi, additional, Blanco, Ignacio, additional, Feliubadalo, Lidia, additional, Brunet, Joan, additional, Gayther, Simon A., additional, Pharoah, Paul P.D., additional, Odunsi, Kunle O., additional, Karlan, Beth Y., additional, Walsh, Christine S., additional, Olah, Edith, additional, Teo, Soo Hwang, additional, Ganz, Patricia A., additional, Beattie, Mary S., additional, van Rensburg, Elizabeth J., additional, Dorfling, Cecelia M., additional, Diez, Orland, additional, Kwong, Ava, additional, Schmutzler, Rita K., additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Ditsch, Nina, additional, Arnold, Norbert, additional, Heidemann, Simone, additional, Niederacher, Dieter, additional, Preisler-Adams, Sabine, additional, Gadzicki, Dorothea, additional, Varon-Mateeva, Raymonda, additional, Deissler, Helmut, additional, Gehrig, Andrea, additional, Sutter, Christian, additional, Kast, Karin, additional, Fiebig, Britta, additional, Heinritz, Wolfram, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Muranen, Taru A., additional, Nevanlinna, Heli, additional, Tischkowitz, Marc D., additional, Spurdle, Amanda B., additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Lindor, Noralane M., additional, Fredericksen, Zachary, additional, Pankratz, V. Shane, additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Barile, Monica, additional, Bernard, Loris, additional, Viel, Alessandra, additional, Giannini, Giuseppe, additional, Varesco, Liliana, additional, Radice, Paolo, additional, Greene, Mark H., additional, Mai, Phuong L., additional, Easton, Douglas F., additional, Chenevix-Trench, Georgia, additional, Offit, Kenneth, additional, and Simard, Jacques, additional

Published
2012
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19. Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Author

van Bon, Bregje W M, primary, Koolen, David A, additional, Brueton, Louise, additional, McMullan, Dominic, additional, Lichtenbelt, Klaske D, additional, Adès, Lesley C, additional, Peters, Gregory, additional, Gibson, Kate, additional, Moloney, Susan, additional, Novara, Francesca, additional, Pramparo, Tiziano, additional, Bernardina, Bernardo Dalla, additional, Zoccante, Leonardo, additional, Balottin, Umberto, additional, Piazza, Fausta, additional, Pecile, Vanna, additional, Gasparini, Paolo, additional, Guerci, Veronica, additional, Kets, Marleen, additional, Pfundt, Rolph, additional, de Brouwer, Arjan P, additional, Veltman, Joris A, additional, de Leeuw, Nicole, additional, Wilson, Meredith, additional, Antony, Jayne, additional, Reitano, Santina, additional, Luciano, Daniela, additional, Fichera, Marco, additional, Romano, Corrado, additional, Brunner, Han G, additional, Zuffardi, Orsetta, additional, and de Vries, Bert BA, additional

Published
2010
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20. Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Author

van Bon, Bregje WM, primary, Koolen, David A, additional, Brueton, Louise, additional, McMullan, Dominic, additional, Lichtenbelt, Klaske D, additional, Adès, Lesley C, additional, Peters, Gregory, additional, Gibson, Kate, additional, Novara, Francesca, additional, Pramparo, Tiziano, additional, Bernardina, Bernardo Dalla, additional, Zoccante, Leonardo, additional, Balottin, Umberto, additional, Piazza, Fausta, additional, Pecile, Vanna, additional, Gasparini, Paolo, additional, Guerci, Veronica, additional, Kets, Marleen, additional, Pfundt, Rolph, additional, de Brouwer, Arjan P, additional, Veltman, Joris A, additional, de Leeuw, Nicole, additional, Wilson, Meredith, additional, Antony, Jayne, additional, Reitano, Santina, additional, Luciano, Daniela, additional, Fichera, Marco, additional, Romano, Corrado, additional, Brunner, Han G, additional, Zuffardi, Orsetta, additional, and de Vries, Bert BA, additional

Published
2010
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21. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Author

van Bon, Bregje WM, primary, Koolen, David A, additional, Brueton, Louise, additional, McMullan, Dominic, additional, Lichtenbelt, Klaske D, additional, Adès, Lesley C, additional, Peters, Gregory, additional, Gibson, Kate, additional, Novara, Francesca, additional, Pramparo, Tiziano, additional, Bernardina, Bernardo Dalla, additional, Zoccante, Leonardo, additional, Balottin, Umberto, additional, Piazza, Fausta, additional, Pecile, Vanna, additional, Gasparini, Paolo, additional, Guerci, Veronica, additional, Kets, Marleen, additional, Pfundt, Rolph, additional, de Brouwer, Arjan P, additional, Veltman, Joris A, additional, de Leeuw, Nicole, additional, Wilson, Meredith, additional, Antony, Jayne, additional, Reitano, Santina, additional, Luciano, Daniela, additional, Fichera, Marco, additional, Romano, Corrado, additional, Brunner, Han G, additional, Zuffardi, Orsetta, additional, and de Vries, Bert BA, additional

Published
2009
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22. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Author

van Bon, Bregje W. M., Koolen, David A., Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D., Adès, Lesley C., Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, and de Brouwer, Arjan P.

Subjects
CHROMOSOME analysis, MICROCEPHALY, SHORT stature, INTELLECTUAL disabilities, PHENOTYPES
Abstract

Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith–Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett's syndrome. Another gene in the 2q23.1 region, EPC2, was deleted in 12 patients who had a broader phenotype than those with a deletion of MBD5 only. EPC2 is a member of the polycomb protein family, involved in heterochromatin formation and might be involved in causing MR. Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems. [ABSTRACT FROM AUTHOR]

Published
2010
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23. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Cornelis, Franco̧is, Peterlongo, Paolo, Tejada, María Isabel, Karlsson, Per, Hansen, Thomas V.O., Domchek, Susan M., Sutter, Christian, Godwin, Andrew K., Janavicius, Ramunas, Thomassen, Mads, Kirchhoff, Tomas, Lindor, Noralane M., Van Rensburg, Elizabeth J., Ewart-Toland, Amanda, Agata, Simona, McGuffog, Lesley, Coupier, Isabelle, Evans, D. Gareth, Andrulis, Irene L., Zołwocka, Elzbieta, Fineberg, Elena, Peissel, Bernard, Engel, Christoph, Kennedy, M. John, Meijers-Heijboer, Hanne E.J., Ehrencrona, Hans, Niederacher, Dieter, Porteous, Mary E., Eccles, Diana M., Caligo, Maria A., Rubinstein, Wendy S., Ganz, Patricia A., Huzarski, Tomasz, Tea, Muy Kheng M., Kruse, Torben A., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Kwong, Ava, Simard, Jacques, Healey, Sue, Varesco, Liliana, Von Wachenfeldt, Anna, Teo, Soo Hwang, Terry, Mary Beth, Buys, Saundra S., Wang, Xianshu, Caron, Olivier, Barile, Monica, Caldes, Trinidad, Beattie, Mary S., Brewer, Carole, Gerdes, Anne Marie, Spurdle, Amanda B., Sarrel, Kara, Miron, Alexander, Mai, Phuong L., Sinilnikova, Olga M., Peock, Susan, Lazaro, Conxi, Byrski, Tomasz, Fredericksen, Zachary, Wakeley, Katie, Brunet, Joan, Van Leeuwen, Flora E., Stoppa-Lyonnet, Dominique, Durań, Mercedes, Couch, Fergus J., Varon-Mateeva, Raymonda, Castera, Laurent, Giannini, Giuseppe, Chung, Wendy K., Lubinski, Jan, Heinritz, Wolfram, Muranen, Taru A., Bernard, Loris, Preisler-Adams, Sabine, Arnold, Norbert, Lynch, Henry T., Kets, Marleen, Diez, Orland, Platte, Radka, Karlan, Beth Y., Loman, Niklas, Daly, Mary B., Chen, Xiaoqing, Odunsi, Kunle O., Snyder, Carrie L., Douglas, Fiona, Hopper, John L., Radice, Paolo, Dorfling, Cecelia M., Arason, Aoalgeir, Jacobs, Chris, Basil, Jack, Piedmonte, Marion, Viel, Alessandra, Jaworska, Katarzyna, Pujol, Pascal, Mulligan, Anna Marie, Jensen, Uffe Birk, Fassy-Colcombet, Marion, Rebbeck, Timothy R., Gehrig, Andrea, Goŕski, Bohdan, Rappaport, Christine, Osorio, Ana, Benitez, Javier, Ditsch, Nina, Kast, Karin, Paterson, Joan, Nevanlinna, Heli, Southey, Melissa C., Goldgar, David E., Manoukian, Siranoush, Bove, Betsy, Boutry-Kryza, Nadia, Durda, Katarzyna, Heidemann, Simone, Kuchenbaecker, Karoline B., Walsh, Christine S., Deissler, Helmut, Meindl, Alfons, Van Os, Theo A., Ozcelik, Hilmi, Phillips, Kelly, Wijnen, Juul, Delnatte, Capucine, Gaudet, Mia M., Morrison, Patrick J., Fink-Retter, Anneliese, De La Hoya, Miguel, Bressac-de Paillerets, Brigitte, Leóne, Meĺanie, Zaffaroni, Daniela, Hodgson, Shirley V., Nielsen, Finn C., Mazoyer, Sylvie, Walker, Lisa, Ausems, Margreet G.E.M., Eeles, Rosalind A., Robson, Mark E., Side, Lucy E., Pharoah, Paul P.D., Antoniou, Antonis C., Lee, Andrew, Greene, Mark H., Adlard, Julian, Gadzicki, Dorothea, Fiebig, Britta, Singer, Christian F., Blok, Marinus J., Soucy, Penny, Easton, Douglas F., Gayther, Simon A., Barrowdale, Daniel, Beesley, Jonathan, Ding, Yuan Chun, Jakubowska, Ania, Davidson, Rosemarie, Schmutzler, Rita K., Boggess, John, Skytte, Anne Bine, Olah, Edith, Hogervorst, Frans B.L., Montagna, Marco, Ramus, Susan J., Vijai, Joseph, Barbany-Bustinza, Gisela, Tischkowitz, Marc D., Offit, Kenneth, Oldenburg, Rogier A., Neuhausen, Susan L., Ellis, Steve D., Cole, Trevor, Cook, Jackie, Pankratz, V. Shane, Soller, Maria, Blanco, Ignacio, Isaacs, Claudine, Frost, Debra, Feliubadalo, Lidia, Akloul, Linda, Shah, Sohela, Hamann, Ute, John, Esther M., Cybulski, Cezary, Wappenschmidt, Barbara, Nathanson, Katherine, Hooning, Maartje J., and Gronwald, Jacek

Subjects
endocrine system diseases, skin and connective tissue diseases, 3. Good health
Abstract

Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

24. Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Author

van Bon, Bregje W. M., Koolen, David A., Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D., Adès, Lesley C., Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, and de Brouwer, Arjan P.

Subjects
AUTHORS
Abstract

A correction to the article "The 2q23.1 Microdeletion Syndrome: Clinical and Behavioural Phenotype," that was published in the October 7, 2009 issue is presented.

Published
2010
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