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

Author: Stroot, Iris A.S., Bart, Joost, Hollema, Harry, Jalving, Mathilde, Wagner, Marise M., Yigit, Refika, van Doorn, Helena C., de Hullu, Joanne A., Gaarenstroom, Katja N., van Beurden, Marc, van Lonkhuijzen, Luc R.C.W., Slangen, Brigitte F.M., Zweemer, Ronald P., Gómez García, Encarna B., Ausems, Margreet G.E.M., Boere, Ingrid A., van Hest, Liselotte P., Duijkers, Floor A.M., van Asperen, Christi J., Schmidt, Marjanka K., Wevers, Marijke R., Ruijs, Marielle W.G., Devilee, Peter, Collée, J. Margriet, HEBON investigators, de Bock, Geertruida H., and Mourits, Marian J.E.
Published: 2024
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2. PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients

Author: Giardiello, Daniele, Hooning, Maartje J, Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, BAM, Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Camp, Nicola J, Czene, Kamila, Devilee, Peter, Eccles, Diana M, Fasching, Peter A, Figueroa, Jonine D, Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A, Hamann, Ute, Hopper, John L, Jakubowska, Anna, Leeuwen, Floor E, Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul DP, Siesling, Sabine, Southey, Melissa C, van der Hout, Annemieke H, van Hest, Liselotte P, Chang-Claude, Jenny, Hall, Per, Easton, Douglas F, Steyerberg, Ewout W, and Schmidt, Marjanka K
Subjects: Genetics, Breast Cancer, Prevention, Cancer, Humans, Female, Breast Neoplasms, Mastectomy, Prophylactic Mastectomy, Germ-Line Mutation, Risk Factors, Contralateral breast cancer, Risk prediction, Contralateral preventive mastectomy, Clinical decision-making, Breast cancer genetic predisposition, Breast Cancer Association Consortium, BCAC, Prediction performance, BRCA1/2 germline mutation, Polygenic risk score, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract: BackgroundPrediction of contralateral breast cancer (CBC) risk is challenging due to moderate performances of the known risk factors. We aimed to improve our previous risk prediction model (PredictCBC) by updated follow-up and including additional risk factors.MethodsWe included data from 207,510 invasive breast cancer patients participating in 23 studies. In total, 8225 CBC events occurred over a median follow-up of 10.2 years. In addition to the previously included risk factors, PredictCBC-2.0 included CHEK2 c.1100delC, a 313 variant polygenic risk score (PRS-313), body mass index (BMI), and parity. Fine and Gray regression was used to fit the model. Calibration and a time-dependent area under the curve (AUC) at 5 and 10 years were assessed to determine the performance of the models. Decision curve analysis was performed to evaluate the net benefit of PredictCBC-2.0 and previous PredictCBC models.ResultsThe discrimination of PredictCBC-2.0 at 10 years was higher than PredictCBC with an AUC of 0.65 (95% prediction intervals (PI) 0.56-0.74) versus 0.63 (95%PI 0.54-0.71). PredictCBC-2.0 was well calibrated with an observed/expected ratio at 10 years of 0.92 (95%PI 0.34-2.54). Decision curve analysis for contralateral preventive mastectomy (CPM) showed the potential clinical utility of PredictCBC-2.0 between thresholds of 4 and 12% 10-year CBC risk for BRCA1/2 mutation carriers and non-carriers.ConclusionsAdditional genetic information beyond BRCA1/2 germline mutations improved CBC risk prediction and might help tailor clinical decision-making toward CPM or alternative preventive strategies. Identifying patients who benefit from CPM, especially in the general breast cancer population, remains challenging.
Published: 2022

3. MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome

Author: Helderman, Noah C., Andini, Katarina D., van Leerdam, Monique E., van Hest, Liselotte P., Hoekman, Daniël R., Ahadova, Aysel, Bajwa-ten Broeke, Sanne W., Bosse, Tjalling, van der Logt, Elise M.J., Imhann, Floris, Kloor, Matthias, Langers, Alexandra M.J., Smit, Vincent T.H.B.M., Terlouw, Diantha, van Wezel, Tom, Morreau, Hans, and Nielsen, Maartje
Published: 2024
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4. Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers

Author: van der Werf-’t Lam, Anne-Sophie, Terlouw, Diantha, Tops, Carli M., van Kan, Merel S., 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., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet E., Gomez Garcia, Encarna B., de Wind, Niels, van Wezel, J. Tom, Morreau, Hans, Suerink, Manon, and Nielsen, Maartje
Published: 2023
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5. 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
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6. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Author: Duijkers, Floor, Giltay, Jacques C., van Hest, Liselotte P., Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Nijmeijer, Sebastiaan W.R., Olderode-Berends, Maran J.W., Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Mensenkamp, Arjen R., and Vos, Janet R.
Published: 2022
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7. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author: Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.
Published: 2022
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8. Correction: PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients

Author: Giardiello, Daniele, Hooning, Maartje J., Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, B. A. M., Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Camp, Nicola J., Czene, Kamila, Devilee, Peter, Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A., Hamann, Ute, Hopper, John L., Jakubowska, Anna, Leeuwen, Floor E., Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul D. P., Siesling, Sabine, Southey, Melissa C., van der Hout, Annemieke H., van Hest, Liselotte P., Chang-Claude, Jenny, Hall, Per, Easton, Douglas F., Steyerberg, Ewout W., and Schmidt, Marjanka K.
Published: 2022
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9. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Author: Lakeman, Inge M.M., van den Broek, Alexandra J., Vos, Juliën A.M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A., Chung, Wendy K., Claes, Kathleen B.M., Barouk-Simonet, Emmanuelle, Belotti, Muriel, Berthet, Pascaline, Bignon, Yves-Jean, Bonadona, Valérie, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Caron, Olivier, Castera, Laurent, Caux-Moncoutier, Virginie, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, de Pauw, Antoine, Delnatte, Capucine, Elan, Camille, Faivre, Laurence, Ferrer, Sandra Fert, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Golmard, Lisa, Houdayer, Claude, Lasset, Christine, Laurent, Maïté, Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Prieur, Fabienne, Pujol, Pascal, Saule, Claire, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Venat-Bouvet, Laurence, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brennan, Paul, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Dunning, Alison M., Eason, Jacqueline, Eccles, Diana M., Gregory, Helen, Hanson, Helen, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, O’Shaughnessy-Kirwan, Aoife, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Couch, Fergus J., Daly, Mary B., Dennis, Joe, Dhawan, Mallika, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hogervorst, Frans B.L., Hooning, Maartje J., Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Mulligan, Anna Marie, van Asperen, Christi J., Aalfs, Cora M., Adank, Muriel A., Ausems, Margreet G.E.M., Blok, Marinus J., Gómez Garcia, Encarna B., Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Koudijs, Marco, Kriege, Mieke, Meijers-Heijboer, Hanne E.J., Mensenkamp, Arjen R., Mooij, Thea M., Oosterwijk, Jan C., van den Ouweland, Ans M.W., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H.M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte P., van Os, Theo A.M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Beesley, Jonathan, Fox, Stephen, Holland, Helene, Phillips, Kelly-Anne, Spurdle, Amanda B., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kets, Carolien M., Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue K., Parsons, Michael T., Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Schmutzler, Rita K., Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Bernstein, Jonine L., Offit, Kenneth, Easton, Douglas F., Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., Robson, Mark, and Schmidt, Marjanka K.
Published: 2021
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10. Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center study.

Author: Schei‐Andersen, Ane J., Hendricks, Linda A. J., van der Post, Rachel S., Mensenkamp, Arjen R., Schieving, Jolanda, Adank, Muriel A., Duijkers, Floor, de Jong, Mirjam, Jongemans, Marjolijn C. J., van Hest, Liselotte P., van Ierland, Yvette, Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Schuurs‐Hoeijmakers, Janneke H. M., Hoogerbrugge, Nicoline, and Vos, Janet R.
Subjects: HEREDITARY cancer syndromes, DISEASE risk factors, AGE of onset, BENIGN tumors, HUMAN genetics
Abstract: PTEN hamartoma tumor syndrome (PHTS) has a broad clinical spectrum including various benign and malignant tumors at varying age of diagnosis. Many patients remain unrecognized, unaware of their increased cancer risk. We aimed to describe the cancer spectrum, age of onset and histopathological cancer characteristics to assess whether specific cancer characteristics could improve PHTS recognition. Genetic testing results and pathology reports were collected for patients tested for germline PTEN variants between 1997 and 2020 from the diagnostic laboratory and the Dutch nationwide pathology databank (Palga). The cancer spectrum and age of onset were assessed in patients with (PTENpos) and without (PTENneg) a germline PTEN variant. Histopathological cancer characteristics were assessed in a nested cohort. 341 PTENpos patients (56% females) and 2882 PTENneg patients (66% females) were included. PTENpos patients presented mostly with female breast (BC, 30%), endometrial (EC, 6%), thyroid (TC, 4%) or colorectal cancer (4%). PTENpos were significantly younger at cancer onset (43 vs. 47 years) and had more often (46% vs. 18%) a second BC than PTENneg. PTEN detection rates were highest for BC <40 years (9%), TC <20 years (15%) and EC <50 years (28%), and dropped to 6%, 4%, and 15% by age 60. Histopathological characteristics were similar between groups. No histopathological cancer characteristics were distinctive for PHTS. However, PTENpos were significantly younger at cancer onset. Therefore early‐onset BC, EC, or TC warrants consideration of PHTS diagnostics either through a pre‐screen for other PHTS features or direct germline testing. [ABSTRACT FROM AUTHOR]
Published: 2024
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11. Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome

Author: van der Werf‐'t Lam, Anne‐Sophie, primary, Rodriguez‐Girondo, Mar, additional, Villasmil, Mandy, additional, Tops, Carli M., additional, van Hest, Liselotte, additional, Gille, Hans J. P., additional, Duijkers, Floor A. M., additional, Wagner, Anja, additional, Eikenboom, Ellis, additional, Letteboer, Tom G. W., additional, de Jong, Mirjam M., additional, Bajwa‐ten Broeke, Sanne W., additional, Bleeker, Fonnet, additional, Gomez Garcia, Encarna B., additional, Dominguez‐Valentin, Mev, additional, Møller, Pal, additional, Suerink, Manon, additional, and Nielsen, Maartje, additional
Published: 2024
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12. 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

13. Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome

Author: Genetica, Genetica Klinische Genetica, Child Health, van der Werf-'t Lam, Anne Sophie, Rodriguez-Girondo, Mar, Villasmil, Mandy, Tops, Carli M., van Hest, Liselotte, Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez-Valentin, Mev, Møller, Pal, Suerink, Manon, Nielsen, Maartje, Genetica, Genetica Klinische Genetica, Child Health, van der Werf-'t Lam, Anne Sophie, Rodriguez-Girondo, Mar, Villasmil, Mandy, Tops, Carli M., van Hest, Liselotte, Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez-Valentin, Mev, Møller, Pal, Suerink, Manon, and Nielsen, Maartje
Published: 2024

14. Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome

Author: van der Werf-'t Lam, Anne Sophie, Rodriguez-Girondo, Mar, Villasmil, Mandy, Tops, Carli M., van Hest, Liselotte, Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez-Valentin, Mev, Møller, Pal, Suerink, Manon, Nielsen, Maartje, van der Werf-'t Lam, Anne Sophie, Rodriguez-Girondo, Mar, Villasmil, Mandy, Tops, Carli M., van Hest, Liselotte, Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez-Valentin, Mev, Møller, Pal, Suerink, Manon, and Nielsen, Maartje
Abstract: Background: This study investigates the potential influence of genotype and parent-of-origin effects (POE) on the clinical manifestations of Lynch syndrome (LS) within families carrying (likely) disease-causing MSH6 germline variants. Patients and Methods: A cohort of 1615 MSH6 variant carriers (310 LS families) was analyzed. Participants were categorized based on RNA expression and parental inheritance of the variant. Hazard ratios (HRs) were calculated using weighted Cox regression, considering external information to address ascertainment bias. The findings were cross-validated using the Prospective Lynch Syndrome Database (PLSD) for endometrial cancer (EC). Results: No significant association was observed between genotype and colorectal cancer (CRC) risk (HR = 1.06, 95% confidence interval [CI]: 0.77–1.46). Patients lacking expected RNA expression exhibited a reduced risk of EC (Reference Cohort 1: HR = 0.68, 95% CI: 0.43–1.03; Reference Cohort 2: HR = 0.63, 95% CI: 0.46–0.87). However, these results could not be confirmed in the PLSD. Moreover, no association was found between POE and CRC risk (HR = 0.78, 95% CI: 0.52–1.17) or EC risk (Reference Cohort 1: HR = 0.93, 95% CI: 0.65–1.33; Reference Cohort 2: HR = 0.8, 95% CI: 0.64–1.19). Discussion and Conclusion: No evidence of POE was detected in MSH6 families. While RNA expression may be linked to varying risks of EC, further investigation is required to explore this observation.
Published: 2024

15. Germ-line and somatic DICER1 mutations in pineoblastoma

Author: de Kock, Leanne, Sabbaghian, Nelly, Druker, Harriet, Weber, Evan, Hamel, Nancy, Miller, Suzanne, Choong, Catherine S, Gottardo, Nicholas G, Kees, Ursula R, Rednam, Surya P, van Hest, Liselotte P, Jongmans, Marjolijn C, Jhangiani, Shalini, Lupski, James R, Zacharin, Margaret, Bouron-Dal Soglio, Dorothée, Huang, Annie, Priest, John R, Perry, Arie, Mueller, Sabine, Albrecht, Steffen, Malkin, David, Grundy, Richard G, and Foulkes, William D
Subjects: Biomedical and Clinical Sciences, Neurosciences, Genetic Testing, Human Genome, Genetics, Aetiology, 2.1 Biological and endogenous factors, Cancer, Adolescent, Brain Neoplasms, Child, Child, Preschool, DEAD-box RNA Helicases, DNA Mutational Analysis, Family Health, Female, Germ-Line Mutation, Humans, Infant, Male, Pineal Gland, Pinealoma, Ribonuclease III, Young Adult, DICER1, miRNA processing, Paediatric brain tumours, Pineal gland, Childhood cancer, Mutation, Pineoblastoma, OMIM #601200, Clinical Sciences, Neurology & Neurosurgery
Abstract: Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: Eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.
Published: 2014

16. MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome

Author: Helderman, Noah C., primary, Andini, Katarina D., additional, van Leerdam, Monique E., additional, van Hest, Liselotte P., additional, Hoekman, Daniël R., additional, Ahadova, Aysel, additional, Bajwa-ten Broeke, Sanne W., additional, Bosse, Tjalling, additional, van der Logt, Elise M.J., additional, Imhann, Floris, additional, Kloor, Matthias, additional, Langers, Alexandra M.J., additional, Smit, Vincent T.H.B.M., additional, Terlouw, Diantha, additional, van Wezel, Tom, additional, Morreau, Hans, additional, and Nielsen, Maartje, additional
Published: 2023
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17. 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
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18. Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers

Author: van der Werf-'t Lam, Anne Sophie, Terlouw, Diantha, Tops, Carli M., van Kan, Merel S., 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., Bajwa-Ten Broeke, Sanne W., Bleeker, Fonnet E., Gomez Garcia, Encarna B., de Wind, Niels, van Wezel, J. Tom, Morreau, Hans, Suerink, Manon, Nielsen, Maartje, van der Werf-'t Lam, Anne Sophie, Terlouw, Diantha, Tops, Carli M., van Kan, Merel S., 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., Bajwa-Ten Broeke, Sanne W., Bleeker, Fonnet E., Gomez Garcia, Encarna B., de Wind, Niels, van Wezel, J. Tom, Morreau, Hans, Suerink, Manon, and Nielsen, Maartje
Abstract: Diagnosis of Lynch syndrome (LS) caused by a pathogenic germline MSH6 variant may be complicated by discordant immunohistochemistry (IHC) and/or by a microsatellite stable (MSS) phenotype. This study aimed to identify the various causes of the discordant phenotypes of colorectal cancer (CRC) and endometrial cancer (EC) in MSH6-associated LS. Data were collected from Dutch family cancer clinics. Carriers of a (likely) pathogenic MSH6 variant diagnosed with CRC or EC were categorized based on an microsatellite instability (MSI)/IHC test outcome that might fail to result in a diagnosis of LS (eg, retained staining of all 4 mismatch repair proteins, with or without an MSS phenotype, and other staining patterns). When tumor tissue was available, MSI and/or IHC were repeated. Next-generation sequencing (NGS) was performed in cases with discordant staining patterns. Data were obtained from 360 families with 1763 (obligate) carriers. MSH6 variant carriers with CRC or EC (n = 590) were included, consisting of 418 CRCs and 232 ECs. Discordant staining was reported in 77 cases (36% of MSI/IHC results). Twelve patients gave informed consent for further analysis of tumor material. Upon revision, 2 out of 3 MSI/IHC cases were found to be concordant with the MSH6 variant, and NGS showed that 4 discordant IHC results were sporadic rather than LS-associated tumors. In 1 case, somatic events explained the discordant phenotype. The use of reflex IHC mismatch repair testing, the current standard in most Western countries, may lead to the misdiagnosis of germline MSH6 variant carriers. The pathologist should point out that further diagnostics for inheritable colon cancer, including LS, should be considered in case of a strong positive family history. Germline DNA analysis of the mismatch repair genes, preferably as part of a larger gene panel, should therefore be considered in potential LS patients.
Published: 2023

19. 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

20. Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1

Author: van der Post, Rachel S., Vogelaar, Ingrid P., Manders, Peggy, van der Kolk, Lizet E., Cats, Annemieke, van Hest, Liselotte P., Sijmons, Rolf, Aalfs, Cora M., Ausems, Margreet G.E.M., Gómez García, Encarna B., Wagner, Anja, Hes, Frederik J., Arts, Neeltje, Mensenkamp, Arjen R., van Krieken, J. Han, Hoogerbrugge, Nicoline, and Ligtenberg, Marjolijn J.L.
Published: 2015
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21. Correction:PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients (Breast Cancer Research, (2022), 24, 1, (69), 10.1186/s13058-022-01567-3)

Author: Giardiello, Daniele, Hooning, Maartje J., Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, B. A. M., Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Camp, Nicola J., Czene, Kamila, Devilee, Peter, Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A., Hamann, Ute, Hopper, John L., Jakubowska, Anna, Leeuwen, Floor E., Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul D. P., Siesling, Sabine, Southey, Melissa C., van der Hout, Annemieke H., van Hest, Liselotte P., Chang-Claude, Jenny, Hall, Per, Easton, Douglas F., Steyerberg, Ewout W., Schmidt, Marjanka K., Human genetics, and CCA - Cancer biology and immunology
Published: 2022
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22. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Author: Hendricks, Linda A.J., primary, Hoogerbrugge, Nicoline, additional, Venselaar, Hanka, additional, Aretz, Stefan, additional, Spier, Isabel, additional, Legius, Eric, additional, Brems, Hilde, additional, de Putter, Robin, additional, Claes, Kathleen B.M., additional, Evans, D. Gareth, additional, Woodward, Emma R., additional, Genuardi, Maurizio, additional, Brugnoletti, Fulvia, additional, van Ierland, Yvette, additional, Dijke, Kim, additional, Tham, Emma, additional, Tesi, Bianca, additional, Schuurs-Hoeijmakers, Janneke H.M., additional, Branchaud, Maud, additional, Salvador, Hector, additional, Jahn, Arne, additional, Schnaiter, Simon, additional, Anastasiadou, Violetta Christophidou, additional, Brunet, Joan, additional, Oliveira, Carla, additional, Roht, Laura, additional, Blatnik, Ana, additional, Irmejs, Arvids, additional, Mensenkamp, Arjen R., additional, Vos, Janet R., additional, Duijkers, Floor, additional, Giltay, Jacques C., additional, van Hest, Liselotte P., additional, Kleefstra, Tjitske, additional, Leter, Edward M., additional, Nielsen, Maartje, additional, Nijmeijer, Sebastiaan W.R., additional, and Olderode-Berends, Maran J.W., additional
Published: 2022
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23. MLH1Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome

Author: Helderman, Noah C., Andini, Katarina D., van Leerdam, Monique E., van Hest, Liselotte P., Hoekman, Daniël R., Ahadova, Aysel, Bajwa-ten Broeke, Sanne W., Bosse, Tjalling, van der Logt, Elise M.J., Imhann, Floris, Kloor, Matthias, Langers, Alexandra M.J., Smit, Vincent T.H.B.M., Terlouw, Diantha, van Wezel, Tom, Morreau, Hans, and Nielsen, Maartje
Abstract: Screening for Lynch syndrome (LS) in colorectal cancer (CRC) and endometrial cancer patients generally involves immunohistochemical staining of the mismatch repair (MMR) proteins. In case of MLH1 protein loss, MLH1promotor hypermethylation (MLH1-PM) testing is performed to indirectly distinguish the constitutional MLH1variants from somatic epimutations. Recently, multiple studies have reported that MLH1-PM and pathogenic constitutional MMR variants are not mutually exclusive. This study describes 6 new and 86 previously reported MLH1-PM CRCs or endometrial cancers in LS patients. Of these, methylation of the MLH1gene promotor C region was reported in 30 MLH1, 6 MSH2, 6 MSH6, and 3 PMS2variant carriers at a median age at diagnosis of 48.5 years [interquartile range (IQR), 39–56.75 years], 39 years (IQR, 29–51 years), 58 years (IQR, 53.5–67 years), and 68 years (IQR, 65.6–68.5 years), respectively. For 31 MLH1-PM CRCs in LS patients from the literature, only the B region of the MLH1gene promotor was tested, whereas for 13 cases in the literature the tested region was not specified. Collectively, these data indicate that a diagnosis of LS should not be excluded when MLH1-PM is detected. Clinicians should carefully consider whether follow-up genetic MMR gene testing should be offered, with age <60 to 70 years and/or a positive family history among other factors being suggestive for a potential constitutional MMR gene defect.
Published: 2024
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24. First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants

Author: Coudert, Marie, primary, Drouet, Youenn, additional, Delhomelle, Hélène, additional, Svrcek, Magali, additional, Benusiglio, Patrick R, additional, Coulet, Florence, additional, Clark, Dana Farengo, additional, Katona, Bryson W, additional, van Hest, Liselotte P, additional, van der Kolk, Lizet E, additional, Cats, Annemieke, additional, van Dieren, Jolanda M, additional, Nehoray, Bita, additional, Slavin, Thomas, additional, Spier, Isabel, additional, Hüneburg, Robert, additional, Lobo, Silvana, additional, Oliveira, Carla, additional, Boussemart, Lise, additional, Masson, Laure, additional, Chiesa, Jean, additional, Schwartz, Mathias, additional, Buecher, Bruno, additional, Golmard, Lisa, additional, Bouvier, Anne-Marie, additional, Bonadona, Valérie, additional, Stoppa-lyonnet, Dominique, additional, Lasset, Christine, additional, and Colas, Chrystelle, additional
Published: 2022
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25. PredictCBC-2.0:a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients

Author: Giardiello, Daniele, Hooning, Maartje J., Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, B. A.M., Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Camp, Nicola J., Czene, Kamila, Devilee, Peter, Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A., Hamann, Ute, Hopper, John L., Jakubowska, Anna, Leeuwen, Floor E., Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul D.P., Siesling, Sabine, Southey, Melissa C., van der Hout, Annemieke H., van Hest, Liselotte P., Chang-Claude, Jenny, Hall, Per, Easton, Douglas F., Steyerberg, Ewout W., Schmidt, Marjanka K., Giardiello, Daniele, Hooning, Maartje J., Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, B. A.M., Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Camp, Nicola J., Czene, Kamila, Devilee, Peter, Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A., Hamann, Ute, Hopper, John L., Jakubowska, Anna, Leeuwen, Floor E., Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul D.P., Siesling, Sabine, Southey, Melissa C., van der Hout, Annemieke H., van Hest, Liselotte P., Chang-Claude, Jenny, Hall, Per, Easton, Douglas F., Steyerberg, Ewout W., and Schmidt, Marjanka K.
Abstract: Background: Prediction of contralateral breast cancer (CBC) risk is challenging due to moderate performances of the known risk factors. We aimed to improve our previous risk prediction model (PredictCBC) by updated follow-up and including additional risk factors. Methods: We included data from 207,510 invasive breast cancer patients participating in 23 studies. In total, 8225 CBC events occurred over a median follow-up of 10.2 years. In addition to the previously included risk factors, PredictCBC-2.0 included CHEK2 c.1100delC, a 313 variant polygenic risk score (PRS-313), body mass index (BMI), and parity. Fine and Gray regression was used to fit the model. Calibration and a time-dependent area under the curve (AUC) at 5 and 10 years were assessed to determine the performance of the models. Decision curve analysis was performed to evaluate the net benefit of PredictCBC-2.0 and previous PredictCBC models. Results: The discrimination of PredictCBC-2.0 at 10 years was higher than PredictCBC with an AUC of 0.65 (95% prediction intervals (PI) 0.56–0.74) versus 0.63 (95%PI 0.54–0.71). PredictCBC-2.0 was well calibrated with an observed/expected ratio at 10 years of 0.92 (95%PI 0.34–2.54). Decision curve analysis for contralateral preventive mastectomy (CPM) showed the potential clinical utility of PredictCBC-2.0 between thresholds of 4 and 12% 10-year CBC risk for BRCA1/2 mutation carriers and non-carriers. Conclusions: Additional genetic information beyond BRCA1/2 germline mutations improved CBC risk prediction and might help tailor clinical decision-making toward CPM or alternative preventive strategies. Identifying patients who benefit from CPM, especially in the general breast cancer population, remains challenging.
Published: 2022

26. Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Author: Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.
Abstract: Additional file 1.
Published: 2022
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27. Additional file 1 of PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients

Author: Giardiello, Daniele, Hooning, Maartje J., Hauptmann, Michael, Keeman, Renske, Heemskerk-Gerritsen, B. A. M., Becher, Heiko, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Camp, Nicola J., Czene, Kamila, Devilee, Peter, Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, García-Closas, Montserrat, Haiman, Christopher A., Hamann, Ute, Hopper, John L., Jakubowska, Anna, Leeuwen, Floor E., Lindblom, Annika, Lubiński, Jan, Margolin, Sara, Martinez, Maria Elena, Nevanlinna, Heli, Nevelsteen, Ines, Pelders, Saskia, Pharoah, Paul D. P., Siesling, Sabine, Southey, Melissa C., van der Hout, Annemieke H., van Hest, Liselotte P., Chang-Claude, Jenny, Hall, Per, Easton, Douglas F., Steyerberg, Ewout W., and Schmidt, Marjanka K.
Abstract: Additional file 1. Supplementary methods also including the following tables and figures Table S2. List of BCAC studies (including ABCS source) with the corresponding country and geographic area. Table S4: Clinical utility of the 5-year contralateral breast cancer risk prediction models (PredictCBC-1A with PredictCBC-2.0A and PredictCBC-1B with PredictCBC-2.0B). Figure S1. Visual assessment of calibration through calibration plots in the internal–external cross-validation at 5 years for the PredictCBC-2.0A model. Figure S2. Visual assessment of calibration through calibration plots in the internal–external cross-validation at 10 years for the PredictCBC-2.0A model. Figure S3. Visual assessment of calibration through calibration plots in the internal–external cross-validation at 5 years for the PredictCBC-2.0B model. Figure S4. Visual assessment of calibration through calibration plots in the internal–external cross-validation at 10 years for the PredictCBC-2.0B model. Figure S5. Density distribution of 5-year predicted contralateral breast cancer using PredictCBC-2.0 models. Figure S6. Decision curve analysis at 5 years for the contralateral breast cancer risk models (PredictCBC and PredictCBC-2.0) including BRCA mutation information.
Published: 2022
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28. Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study

Author: Boparai, Karam S., Mathus-Vliegen, Elisabeth M.H., Koornstra, Jan J., Nagengast, Fokko M., van Leerdam, Monique, van Noesel, Carl J.M., Houben, Martin, Cats, Annemieke, van Hest, Liselotte P., Fockens, Paul, and Dekker, Evelien
Subjects: Colorectal cancer -- Risk factors, Colorectal cancer -- Demographic aspects, Colorectal cancer -- Research, Intestinal polyps -- Complications and side effects, Intestinal polyps -- Patient outcomes, Intestinal polyps -- Research, Health
Published: 2010

29. Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

Author: Wielders, Eva AL, Hettinger, Jan, Dekker, Rob, Kets, C Marleen, Ligtenberg, Marjolijn J, Mensenkamp, Arjen R, van den Ouweland, Ans MW, Prins, Judith, Wagner, Anja, Dinjens, Winand NM, Dubbink, Hendrikus Jan, van Hest, Liselotte P, Menko, Fred, Hogervorst, Frans, Verhoef, Senno, and te Riele, Hein
Published: 2014
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30. Two TP53 germline mutations in a classical Li-Fraumeni syndrome family

Author: van Hest, Liselotte P., Ruijs, Mariëlle W. G., Wagner, Anja, van der Meer, Conny A., Verhoef, Senno, van‘t Veer, Laura J., and Meijers-Heijboer, Hanne
Published: 2007
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31. Quantification of Sequence Exchange Events between PMS2 and PMS2CL Provides a Basis for Improved Mutation Scanning of Lynch Syndrome Patients

Author: van der Klift, Heleen M., Tops, Carli M.J., Bik, Elsa C., Boogaard, Merel W., Borgstein, Anne-Marijke, Hansson, Kerstin B.M., Ausems, Margreet G.E.M., Garcia, Encarna Gomez, Green, Andrew, Hes, Frederik J., Izatt, Louise, van Hest, Liselotte P., Alonso, Angel M., Vriends, Annette H.J.T., Wagner, Anja, van Zelst-Stams, Wendy A.G., Vasen, Hans F.A., Morreau, Hans, Devilee, Peter, and Wijnen, Juul T.
Published: 2010
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32. OBSL1 Mutations in 3-M Syndrome are Associated With a Modulation of IGFBP2 and IGFBP5 Expression Levels

Author: Huber, Celine, Fradin, Mélanie, Edouard, Thomas, Merrer, Martine Le, Alanay, Yasemin, Da Silva, Daniela Bezerra, David, Albert, Hamamy, Hanan, van Hest, Liselotte, Lund, Allan M., Michaud, Jacques, Oley, Christine, Patel, Chirag, Rajab, Anna, Skidmore, David L., Stewart, Helen, Tauber, Maité, Munnich, Arnold, and Cormier-Daire, Valerie
Published: 2010

33. Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature

Author: van Bever, Yolande, van Hest, Liselotte, Wolfs, Roger, Tibboel, Dick, van den Hoonaard, Thelma L., and Gischler, Saskia J.
Published: 2008
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34. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author: Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J., Bodrogi, Istvan, Bonadona, Valerie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E., Borde, Julika, Borg, Ake, Bradbury, Angela R., Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S., Cabezas-Camarero, Santiago, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Campbell, Ian G., Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L., Chu, Annie T. W., Chung, Wendy K., Claes, Kathleen B. M., Cook, Jackie, Cortesi, Laura, Couch, Fergus J., Daly, Mary B., Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana M., Eeles, Rosalind A., Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Geczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gutierrez-Barrera, Angelica M., Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B. L., Honisch, Ellen, Hopper, John L., Hulick, Peter J., Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M., Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna, I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A., Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernandez, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T., Ma, Edmond S. K., Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M., Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L., Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C. Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K., Schuster, Helene, Senter, Leigha, Seynaeve, Caroline M., Shah, Payal D., Sharma, Priyanka, Shin, Vivian Y., Silvestri, Valentina, Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y., Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Baan, Frederieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Hest, Liselotte P., Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstrate, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K., D'Amico, Anthony, V, Freedman, Matthew L., Pomerantz, Mark M., Chenevix-Trench, Georgia, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R., Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J., Bodrogi, Istvan, Bonadona, Valerie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E., Borde, Julika, Borg, Ake, Bradbury, Angela R., Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S., Cabezas-Camarero, Santiago, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Campbell, Ian G., Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L., Chu, Annie T. W., Chung, Wendy K., Claes, Kathleen B. M., Cook, Jackie, Cortesi, Laura, Couch, Fergus J., Daly, Mary B., Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana M., Eeles, Rosalind A., Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Geczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gutierrez-Barrera, Angelica M., Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B. L., Honisch, Ellen, Hopper, John L., Hulick, Peter J., Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M., Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna, I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A., Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernandez, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T., Ma, Edmond S. K., Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M., Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L., Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C. Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K., Schuster, Helene, Senter, Leigha, Seynaeve, Caroline M., Shah, Payal D., Sharma, Priyanka, Shin, Vivian Y., Silvestri, Valentina, Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y., Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Baan, Frederieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Hest, Liselotte P., Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstrate, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K., D'Amico, Anthony, V, Freedman, Matthew L., Pomerantz, Mark M., Chenevix-Trench, Georgia, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy R.
Abstract: Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. Weevaluated whether PSVs inBRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 30 region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. Significance: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
Published: 2020

35. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author: Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie T W, Chung, Wendy K, Claes, Kathleen B M, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B L, Honisch, Ellen, Hopper, John L, Hulick, Peter J, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M, Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A, Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E J, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L, Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J, van der Baan, Frederieke H, van der Kolk, Lizet E, van der Luijt, Rob B, van Hest, Liselotte P, Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstraete, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K, D'Amico, Anthony V, Freedman, Matthew L, Pomerantz, Mark M, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R, Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie T W, Chung, Wendy K, Claes, Kathleen B M, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B L, Honisch, Ellen, Hopper, John L, Hulick, Peter J, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M, Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A, Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E J, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L, Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J, van der Baan, Frederieke H, van der Kolk, Lizet E, van der Luijt, Rob B, van Hest, Liselotte P, Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstraete, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K, D'Amico, Anthony V, Freedman, Matthew L, Pomerantz, Mark M, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy R
Abstract: Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3' region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. SIGNIFICANCE: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
Published: 2020

36. Erratum: Cancer risks for PMS2-associated lynch syndrome (Journal of Clinical Oncology (2018) DOI: 10.1200/JCO.2018.78.4777)

Author: van Hest, Liselotte, Human genetics, and CCA - Cancer biology and immunology
Abstract: The October 10, 2018, article by ten Broeke et al entitled "Cancer Risks for PMS2-Associated Lynch Syndrome" (J Clin Oncol 10.1200/JCO.2018.78.4777) was published with an error. Liselotte van Hest should have been included in the author list, between Heather Hampel and John Hopper. The following should have appeared in the list of affiliations: "Liselotte van Hest, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands." Under AUTHOR CONTRIBUTIONS, Liselotte van Hest should have been included in the section entitled Collection and assembly of data. In the section AUTHORS' DISCLOSURES OF POTENTIAL CONFLICTS OF INTEREST, the following should have appeared: "Liselotte van Hest No relationship to disclose." This has been corrected as of February 18, 2019. The authors apologize for the error.
Published: 2019
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37. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author: Patel, Vivek L., primary, Busch, Evan L., additional, Friebel, Tara M., additional, Cronin, Angel, additional, Leslie, Goska, additional, McGuffog, Lesley, additional, Adlard, Julian, additional, Agata, Simona, additional, Agnarsson, Bjarni A., additional, Ahmed, Munaza, additional, Aittomäki, Kristiina, additional, Alducci, Elisa, additional, Andrulis, Irene L., additional, Arason, Adalgeir, additional, Arnold, Norbert, additional, Artioli, Grazia, additional, Arver, Brita, additional, Auber, Bernd, additional, Azzollini, Jacopo, additional, Balmaña, Judith, additional, Barkardottir, Rosa B., additional, Barnes, Daniel R., additional, Barroso, Alicia, additional, Barrowdale, Daniel, additional, Belotti, Muriel, additional, Benitez, Javier, additional, Bertelsen, Birgitte, additional, Blok, Marinus J., additional, Bodrogi, Istvan, additional, Bonadona, Valérie, additional, Bonanni, Bernardo, additional, Bondavalli, Davide, additional, Boonen, Susanne E., additional, Borde, Julika, additional, Borg, Ake, additional, Bradbury, Angela R., additional, Brady, Angela, additional, Brewer, Carole, additional, Brunet, Joan, additional, Buecher, Bruno, additional, Buys, Saundra S., additional, Cabezas-Camarero, Santiago, additional, Caldés, Trinidad, additional, Caliebe, Almuth, additional, Caligo, Maria A., additional, Calvello, Mariarosaria, additional, Campbell, Ian G., additional, Carnevali, Ileana, additional, Carrasco, Estela, additional, Chan, Tsun L., additional, Chu, Annie T.W., additional, Chung, Wendy K., additional, Claes, Kathleen B.M., additional, Collaborators, GEMO Study, additional, Collaborators, EMBRACE, additional, Cook, Jackie, additional, Cortesi, Laura, additional, Couch, Fergus J., additional, Daly, Mary B., additional, Damante, Giuseppe, additional, Darder, Esther, additional, Davidson, Rosemarie, additional, de la Hoya, Miguel, additional, Puppa, Lara Della, additional, Dennis, Joe, additional, Díez, Orland, additional, Ding, Yuan Chun, additional, Ditsch, Nina, additional, Domchek, Susan M., additional, Donaldson, Alan, additional, Dworniczak, Bernd, additional, Easton, Douglas F., additional, Eccles, Diana M., additional, Eeles, Rosalind A., additional, Ehrencrona, Hans, additional, Ejlertsen, Bent, additional, Engel, Christoph, additional, Evans, D. Gareth, additional, Faivre, Laurence, additional, Faust, Ulrike, additional, Feliubadaló, Lídia, additional, Foretova, Lenka, additional, Fostira, Florentia, additional, Fountzilas, George, additional, Frost, Debra, additional, García-Barberán, Vanesa, additional, Garre, Pilar, additional, Gauthier-Villars, Marion, additional, Géczi, Lajos, additional, Gehrig, Andrea, additional, Gerdes, Anne-Marie, additional, Gesta, Paul, additional, Giannini, Giuseppe, additional, Glendon, Gord, additional, Godwin, Andrew K., additional, Goldgar, David E., additional, Greene, Mark H., additional, Gutierrez-Barrera, Angelica M., additional, Hahnen, Eric, additional, Hamann, Ute, additional, Hauke, Jan, additional, Herold, Natalie, additional, Hogervorst, Frans B.L., additional, Honisch, Ellen, additional, Hopper, John L., additional, Hulick, Peter J., additional, Investigators, KConFab, additional, Investigators, HEBON, additional, Izatt, Louise, additional, Jager, Agnes, additional, James, Paul, additional, Janavicius, Ramunas, additional, Jensen, Uffe Birk, additional, Jensen, Thomas Dyrso, additional, Johannsson, Oskar Th., additional, John, Esther M., additional, Joseph, Vijai, additional, Kang, Eunyoung, additional, Kast, Karin, additional, Kiiski, Johanna I., additional, Kim, Sung-Won, additional, Kim, Zisun, additional, Ko, Kwang-Pil, additional, Konstantopoulou, Irene, additional, Kramer, Gero, additional, Krogh, Lotte, additional, Kruse, Torben A., additional, Kwong, Ava, additional, Larsen, Mirjam, additional, Lasset, Christine, additional, Lautrup, Charlotte, additional, Lazaro, Conxi, additional, Lee, Jihyoun, additional, Lee, Jong Won, additional, Lee, Min Hyuk, additional, Lemke, Johannes, additional, Lesueur, Fabienne, additional, Liljegren, Annelie, additional, Lindblom, Annika, additional, Llovet, Patricia, additional, Lopez-Fernández, Adria, additional, Lopez-Perolio, Irene, additional, Lorca, Victor, additional, Loud, Jennifer T., additional, Ma, Edmond S.K., additional, Mai, Phuong L., additional, Manoukian, Siranoush, additional, Mari, Veronique, additional, Martin, Lynn, additional, Matricardi, Laura, additional, Mebirouk, Noura, additional, Medici, Veronica, additional, Meijers-Heijboer, Hanne E.J., additional, Meindl, Alfons, additional, Mensenkamp, Arjen R., additional, Miller, Clare, additional, Gomes, Denise Molina, additional, Montagna, Marco, additional, Mooij, Thea M., additional, Moserle, Lidia, additional, Mouret-Fourme, Emmanuelle, additional, Mulligan, Anna Marie, additional, Nathanson, Katherine L., additional, Navratilova, Marie, additional, Nevanlinna, Heli, additional, Niederacher, Dieter, additional, Nielsen, Finn C. Cilius, additional, Nikitina-Zake, Liene, additional, Offit, Kenneth, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Ong, Kai-Ren, additional, Osorio, Ana, additional, Ott, Claus-Eric, additional, Palli, Domenico, additional, Park, Sue K., additional, Parsons, Michael T., additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Peixoto, Ana, additional, Pérez-Segura, Pedro, additional, Peterlongo, Paolo, additional, Petersen, Annabeth Høgh, additional, Porteous, Mary E., additional, Pujana, Miguel Angel, additional, Radice, Paolo, additional, Ramser, Juliane, additional, Rantala, Johanna, additional, Rashid, Muhammad U., additional, Rhiem, Kerstin, additional, Rizzolo, Piera, additional, Robson, Mark E., additional, Rookus, Matti A., additional, Rossing, Caroline M., additional, Ruddy, Kathryn J., additional, Santos, Catarina, additional, Saule, Claire, additional, Scarpitta, Rosa, additional, Schmutzler, Rita K., additional, Schuster, Hélène, additional, Senter, Leigha, additional, Seynaeve, Caroline M., additional, Shah, Payal D., additional, Sharma, Priyanka, additional, Shin, Vivian Y., additional, Silvestri, Valentina, additional, Simard, Jacques, additional, Singer, Christian F., additional, Skytte, Anne-Bine, additional, Snape, Katie, additional, Solano, Angela R., additional, Soucy, Penny, additional, Southey, Melissa C., additional, Spurdle, Amanda B., additional, Steele, Linda, additional, Steinemann, Doris, additional, Stoppa-Lyonnet, Dominique, additional, Stradella, Agostina, additional, Sunde, Lone, additional, Sutter, Christian, additional, Tan, Yen Y., additional, Teixeira, Manuel R., additional, Teo, Soo Hwang, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Tischkowitz, Marc, additional, Tognazzo, Silvia, additional, Toland, Amanda E., additional, Tommasi, Stefania, additional, Torres, Diana, additional, Toss, Angela, additional, Trainer, Alison H., additional, Tung, Nadine, additional, van Asperen, Christi J., additional, van der Baan, Frederieke H., additional, van der Kolk, Lizet E., additional, van der Luijt, Rob B., additional, van Hest, Liselotte P., additional, Varesco, Liliana, additional, Varon-Mateeva, Raymonda, additional, Viel, Alessandra, additional, Vierstraete, Jeroen, additional, Villa, Roberta, additional, von Wachenfeldt, Anna, additional, Wagner, Philipp, additional, Wang-Gohrke, Shan, additional, Wappenschmidt, Barbara, additional, Weitzel, Jeffrey N., additional, Wieme, Greet, additional, Yadav, Siddhartha, additional, Yannoukakos, Drakoulis, additional, Yoon, Sook-Yee, additional, Zanzottera, Cristina, additional, Zorn, Kristin K., additional, D'Amico, Anthony V., additional, Freedman, Matthew L., additional, Pomerantz, Mark M., additional, Chenevix-Trench, Georgia, additional, Antoniou, Antonis C., additional, Neuhausen, Susan L., additional, Ottini, Laura, additional, Nielsen, Henriette Roed, additional, and Rebbeck, Timothy R., additional
Published: 2020
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38. Role of germline aberrations affecting,andin gastric cancer susceptibility

Author: Weren, Robbert D A, van der Post, Rachel S, Vogelaar, Ingrid P, van Krieken, J Han, Spruijt, Liesbeth, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M, van Hest, Liselotte P, Oliveira, Carla, Kamping, Eveline J, Schackert, Hans K, Ranzani, Guglielmina N, Gómez García, Encarna B, Hes, Frederik J, Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G E M, Sijmons, Rolf H, Wagner, Anja, van der Kolk, Lizet E, Cats, Annemieke, Bjørnevoll, Inga, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J L, and Guided Treatment in Optimal Selected Cancer Patients (GUTS)
Subjects: Journal Article
Abstract: BACKGROUND: In approximately 10% of all gastric cancer (GC) cases, a heritable cause is suspected. A subset of these cases have a causative germlineCDH1mutation; however, in most cases the cause remains unknown. Our objective was to assess to what extent these remaining cases may be explained by germline mutations in the novel candidate GC predisposing genesCTNNA1,MAP3K6orMYD88. METHODS: We sequenced a large cohort of unexplained young and/or familial patients with GC (n=286) without aCDH1germline mutation for germline variants affectingCTNNA1,MAP3K6andMYD88using a targeted next-generation sequencing approach based on single-molecule molecular inversion probes. RESULTS: Predicted deleterious germline variants were not encountered inMYD88, but recurrently observed inCTNNA1(n=2) andMAP3K6(n=3) in our cohort of patients with GC. In contrast to deleterious variants inCTNNA1, deleterious variants inMAP3K6also occur frequently in the general population. CONCLUSIONS: Based on our resultsMAP3K6should no longer be considered a GC predisposition gene, whereas deleteriousCTNNA1variants are confirmed as an infrequent cause of GC susceptibility. BiallelicMYD88germline mutations are at most a very rare cause of GC susceptibility as no additional cases were identified.
Published: 2018

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

Author: Chau, Cindy, primary, van Doorn, Remco, additional, van Poppelen, Natasha M., additional, van der Stoep, Nienke, additional, Mensenkamp, Arjen R., additional, Sijmons, Rolf H., additional, van Paassen, Barbara W., additional, van den Ouweland, Ans M. W., additional, Naus, Nicole C., additional, van der Hout, Annemieke H., additional, Potjer, Thomas P., additional, Bleeker, Fonnet E., additional, Wevers, Marijke R., additional, van Hest, Liselotte P., additional, Jongmans, Marjolijn C. J., additional, Marinkovic, Marina, additional, Bleeker, Jaco C., additional, Jager, Martine J., additional, Luyten, Gregorius P. M., additional, and Nielsen, Maartje, additional
Published: 2019
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40. Families with BAP1-Tumor Predisposition Syndrome in The Netherlands : Path to Identification and a Proposal for Genetic Screening Guidelines

Author: Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M, van der Stoep, Nienke, Mensenkamp, Arjen R, Sijmons, Rolf H, van Paassen, Barbara W, van den Ouweland, Ans M W, Naus, Nicole C, van der Hout, Annemieke H, Potjer, Thomas P, Bleeker, Fonnet E, Wevers, Marijke R, van Hest, Liselotte P, Jongmans, Marjolijn C J, Marinkovic, Marina, Bleeker, Jaco C, Jager, Martine J, Luyten, Gregorius P M, Nielsen, Maartje, Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M, van der Stoep, Nienke, Mensenkamp, Arjen R, Sijmons, Rolf H, van Paassen, Barbara W, van den Ouweland, Ans M W, Naus, Nicole C, van der Hout, Annemieke H, Potjer, Thomas P, Bleeker, Fonnet E, Wevers, Marijke R, van Hest, Liselotte P, Jongmans, Marjolijn C J, Marinkovic, Marina, Bleeker, Jaco C, Jager, Martine J, Luyten, Gregorius P M, and Nielsen, Maartje
Published: 2019

41. 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, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmana, Judith, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldes, 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., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Doerk, 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, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, 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., 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, Lindstrom, Sara, Long, Jirong, Loud, Jennifer T., Lubinski, 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, Hakan, 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, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Therese, 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, Chenevix-Trench, Georgia, Arnold, Norbert, Auber, Bernd, Bogdanova-Markov, Nadja, Borde, Julika, Caliebe, Almuth, Ditsch, Nina, Dworniczak, Bernd, Engert, Stefanie, Faust, Ulrike, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Just, Walter, Kast, Karin, Larsen, Mirjam, Lemke, Johannes, Niederacher, Dieter, Ott, Claus-Eric, Platzer, Konrad, Pohl-Rescigno, Esther, Ramser, Juliane, Rhiem, Kerstin, Steinemann, Doris, Sutter, Christian, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Weber, Bernhard H. F., Prieur, Fabienne, Pujol, Pascal, Sagne, Charlotte, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Venat-Bouvet, Laurence, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D. Gareth, Gregory, Helen, Hanson, Helen, Henderson, Alex, Hodgson, Shirley, Izatt, Louise, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Harrington, Patricia A., Heemskerk-Gerritsen, Bernadette A. M., Rookus, Matti A., Seynaeve, Caroline M., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H. M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte, van Os, Theo A. M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Miron, Alexander, Kapuscinski, Miroslav, Bane, Anita, Ross, Eric, Buys, Saundra S., Conner, Thomas A., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, Soon C., Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Ferreira, Manuel A., Gamazon, Eric R., Al-Ejeh, Fares, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmana, Judith, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldes, 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., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Doerk, 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, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, 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., 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, Lindstrom, Sara, Long, Jirong, Loud, Jennifer T., Lubinski, 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, Hakan, 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, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Therese, 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, Chenevix-Trench, Georgia, Arnold, Norbert, Auber, Bernd, Bogdanova-Markov, Nadja, Borde, Julika, Caliebe, Almuth, Ditsch, Nina, Dworniczak, Bernd, Engert, Stefanie, Faust, Ulrike, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Just, Walter, Kast, Karin, Larsen, Mirjam, Lemke, Johannes, Niederacher, Dieter, Ott, Claus-Eric, Platzer, Konrad, Pohl-Rescigno, Esther, Ramser, Juliane, Rhiem, Kerstin, Steinemann, Doris, Sutter, Christian, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Weber, Bernhard H. F., Prieur, Fabienne, Pujol, Pascal, Sagne, Charlotte, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Venat-Bouvet, Laurence, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D. Gareth, Gregory, Helen, Hanson, Helen, Henderson, Alex, Hodgson, Shirley, Izatt, Louise, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Harrington, Patricia A., Heemskerk-Gerritsen, Bernadette A. M., Rookus, Matti A., Seynaeve, Caroline M., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H. M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte, van Os, Theo A. M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Miron, Alexander, Kapuscinski, Miroslav, Bane, Anita, Ross, Eric, Buys, Saundra S., Conner, Thomas A., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, Soon C., Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, and Yip, Desmond
Abstract: Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
Published: 2019

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

Author: Genetica Klinische Genetica, Child Health, Cancer, Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M, van der Stoep, Nienke, Mensenkamp, Arjen R, Sijmons, Rolf H, van Paassen, Barbara W, van den Ouweland, Ans M W, Naus, Nicole C, van der Hout, Annemieke H, Potjer, Thomas P, Bleeker, Fonnet E, Wevers, Marijke R, van Hest, Liselotte P, Jongmans, Marjolijn C J, Marinkovic, Marina, Bleeker, Jaco C, Jager, Martine J, Luyten, Gregorius P M, Nielsen, Maartje, Genetica Klinische Genetica, Child Health, Cancer, Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M, van der Stoep, Nienke, Mensenkamp, Arjen R, Sijmons, Rolf H, van Paassen, Barbara W, van den Ouweland, Ans M W, Naus, Nicole C, van der Hout, Annemieke H, Potjer, Thomas P, Bleeker, Fonnet E, Wevers, Marijke R, van Hest, Liselotte P, Jongmans, Marjolijn C J, Marinkovic, Marina, Bleeker, Jaco C, Jager, Martine J, Luyten, Gregorius P M, and Nielsen, Maartje
Published: 2019

43. First estimates of diffuse gastric cancer risks for carriers of CTNNA1germline pathogenic variants

Author: Coudert, Marie, Drouet, Youenn, Delhomelle, Hélène, Svrcek, Magali, Benusiglio, Patrick R, Coulet, Florence, Clark, Dana Farengo, Katona, Bryson W, van Hest, Liselotte P, van der Kolk, Lizet E, Cats, Annemieke, van Dieren, Jolanda M, Nehoray, Bita, Slavin, Thomas, Spier, Isabel, Hu¨neburg, Robert, Lobo, Silvana, Oliveira, Carla, Boussemart, Lise, Masson, Laure, Chiesa, Jean, Schwartz, Mathias, Buecher, Bruno, Golmard, Lisa, Bouvier, Anne-Marie, Bonadona, Valérie, Stoppa-lyonnet, Dominique, Lasset, Christine, and Colas, Chrystelle
Abstract: BackgroundPathogenic variants (PV) of CTNNA1are found in families fulfilling criteria for hereditary diffuse gastric cancer (HDGC) but no risk estimates were available until now. The aim of this study is to evaluate diffuse gastric cancer (DGC) risks for carriers of germline CTNNA1PV.MethodsData from published CTNNA1 families were updated and new families were identified through international collaborations. The cumulative risk of DGC by age for PV carriers was estimated with the genotype restricted likelihood (GRL) method, taking into account non-genotyped individuals and conditioning on all observed phenotypes and genotypes of the index case to obtain unbiased estimates. A non-parametric (NP) and the Weibull functions were used to model the shape of penetrance function with the GRL. Kaplan-Meier incidence curve and standardised incidence ratios were also computed. A ‘leave-one-out’ strategy was used to evaluate estimate uncertainty.ResultsThirteen families with 46 carriers of PV were included. The cumulative risks of DGC at 80 years for carriers of CTNNA1PV are 49% and 57%, respectively with the Weibull GRL and NP GRL methods. Risk ratios to population incidence reach particularly high values at early ages and decrease with age. At 40 years, they are equal to 65 and 833, respectively with the Weibull GRL and NP GRL.ConclusionThis is the largest series of CTNNA1families that provides the first risk estimates of GC. These data will help to improve management and surveillance for these patients and support inclusion of CTNNA1in germline testing panels.
Published: 2022
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44. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

Author: Vogelaar, Ingrid P., Ligtenberg, Marjolijn J. L., van der Post, Rachel S., de Voer, Richarda M., Kets, C. Marleen, Jansen, Trees J. G., Jacobs, Liesbeth, Schreibelt, Gerty, de Vries, I. Jolanda M., Netea, Mihai G., Hoogerbrugge, Nicoline, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Schackert, Hans K., Aalfs, Cora M., Gómez García, Encarna B., Ranzani, Guglielmina N., Molinaro, Valeria, van Hest, Liselotte P., Hes, Frederik J., Holinski Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G. E. M., Sijmons, Rolf H., Wagner, Anja, van der Kolk, Lizet E., Pinheiro, Hugo, Oliveira, Carla, Bjørnevoll, Inga, Høberg Vetti, Hildegunn, Han, J., van Krieken, J. M., Human genetics, CCA - Cancer biology, and Medical Genetics
Subjects: Helicobacter Infections/drug therapy, 0301 basic medicine, Pathology, Cancer Research, Candida albicans/immunology, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], medicine.medical_treatment, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Case Reports, Settore MED/03 - GENETICA MEDICA, Germline, Candida albicans, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Missense mutation, Genetics(clinical), Myeloid Differentiation Factor 88/genetics, Non-U.S. Gov't, Genetics (clinical), Medicine(all), biology, Research Support, Non-U.S. Gov't, Homozygote, Interleukin-17, Candidiasis, Candidiasis/etiology, 3. Good health, Cytokine, Oncology, Original Article, Female, Candidaalbicans, Interleukin 17, Stomach Neoplasms/etiology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Th17 response, Research Support, Peripheral blood mononuclear cell, Helicobacter Infections, 03 medical and health sciences, Immune system, Stomach Neoplasms, medicine, Genetics, Journal Article, Humans, cancer, Gastric cancer, MYD88, Myeloid Differentiation Factor 88, business.industry, Cancer, biology.organism_classification, medicine.disease, 030104 developmental biology, Interleukin-17/metabolism, Immunology, business
Abstract: Contains fulltext : 171354.pdf (Publisher’s version ) (Open Access) Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.
Published: 2016
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45. Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

Author: Weren, Robbert D A, primary, van der Post, Rachel S, additional, Vogelaar, Ingrid P, additional, van Krieken, J Han, additional, Spruijt, Liesbeth, additional, Lubinski, Jan, additional, Jakubowska, Anna, additional, Teodorczyk, Urszula, additional, Aalfs, Cora M, additional, van Hest, Liselotte P, additional, Oliveira, Carla, additional, Kamping, Eveline J, additional, Schackert, Hans K, additional, Ranzani, Guglielmina N, additional, Gómez García, Encarna B, additional, Hes, Frederik J, additional, Holinski-Feder, Elke, additional, Genuardi, Maurizio, additional, Ausems, Margreet G E M, additional, Sijmons, Rolf H, additional, Wagner, Anja, additional, van der Kolk, Lizet E, additional, Cats, Annemieke, additional, Bjørnevoll, Inga, additional, Hoogerbrugge, Nicoline, additional, and Ligtenberg, Marjolijn J L, additional
Published: 2018
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46. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Author: Vogelaar, Ingrid P, primary, van der Post, Rachel S, additional, van Krieken, J Han JM, additional, Spruijt, Liesbeth, additional, van Zelst-Stams, Wendy AG, additional, Kets, C Marleen, additional, Lubinski, Jan, additional, Jakubowska, Anna, additional, Teodorczyk, Urszula, additional, Aalfs, Cora M, additional, van Hest, Liselotte P, additional, Pinheiro, Hugo, additional, Oliveira, Carla, additional, Jhangiani, Shalini N, additional, Muzny, Donna M, additional, Gibbs, Richard A, additional, Lupski, James R, additional, de Ligt, Joep, additional, Vissers, Lisenka E L M, additional, Hoischen, Alexander, additional, Gilissen, Christian, additional, van de Vorst, Maartje, additional, Goeman, Jelle J, additional, Schackert, Hans K, additional, Ranzani, Guglielmina N, additional, Molinaro, Valeria, additional, Gómez García, Encarna B, additional, Hes, Frederik J, additional, Holinski-Feder, Elke, additional, Genuardi, Maurizio, additional, Ausems, Margreet G E M, additional, Sijmons, Rolf H, additional, Wagner, Anja, additional, van der Kolk, Lizet E, additional, Bjørnevoll, Inga, additional, Høberg-Vetti, Hildegunn, additional, van Kessel, Ad Geurts, additional, Kuiper, Roland P, additional, Ligtenberg, Marjolijn J L, additional, and Hoogerbrugge, Nicoline, additional
Published: 2017
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47. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Author: Vogelaar, Ingrid P., van der Post, Rachel S., Van Krieken, J. Han J M, Spruijt, Liesbeth, van Zelst-Stams, Wendy A. G., Kets, C. Marleen, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M., Van Hest, Liselotte P., Pinheiro, Hugo, Oliveira, Carla, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R, De Ligt, Joep, Vissers, Lisenka E L M, Hoischen, Alexander, Gilissen, Christian, Van De Vorst, Maartje, Goeman, Jelle J., Schackert, Hans K, Ranzani, Guglielmina N., Molinaro, Valeria, García, Encarna B.Gómez, Hes, Frederik J., Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G.E.M., Sijmons, Rolf H., Wagner, Anja, Van Der Kolk, Lizet E., Bjørnevoll, Inga, Høberg Vetti, Hildegunn, van Kessel, Ad Geurts, Kuiper, Roland P., Ligtenberg, Marjolijn J. L., Hoogerbrugge, Nicoline, Vogelaar, Ingrid P., van der Post, Rachel S., Van Krieken, J. Han J M, Spruijt, Liesbeth, van Zelst-Stams, Wendy A. G., Kets, C. Marleen, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M., Van Hest, Liselotte P., Pinheiro, Hugo, Oliveira, Carla, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R, De Ligt, Joep, Vissers, Lisenka E L M, Hoischen, Alexander, Gilissen, Christian, Van De Vorst, Maartje, Goeman, Jelle J., Schackert, Hans K, Ranzani, Guglielmina N., Molinaro, Valeria, García, Encarna B.Gómez, Hes, Frederik J., Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G.E.M., Sijmons, Rolf H., Wagner, Anja, Van Der Kolk, Lizet E., Bjørnevoll, Inga, Høberg Vetti, Hildegunn, van Kessel, Ad Geurts, Kuiper, Roland P., Ligtenberg, Marjolijn J. L., and Hoogerbrugge, Nicoline
Published: 2017

48. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Author: CMM Groep De Ridder, Cancer, Genetica, UMC Utrecht, Genetica Sectie Oncogenetica, Child Health, Vogelaar, Ingrid P., van der Post, Rachel S., Van Krieken, J. Han J M, Spruijt, Liesbeth, van Zelst-Stams, Wendy A. G., Kets, C. Marleen, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M., Van Hest, Liselotte P., Pinheiro, Hugo, Oliveira, Carla, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R, De Ligt, Joep, Vissers, Lisenka E L M, Hoischen, Alexander, Gilissen, Christian, Van De Vorst, Maartje, Goeman, Jelle J., Schackert, Hans K, Ranzani, Guglielmina N., Molinaro, Valeria, García, Encarna B.Gómez, Hes, Frederik J., Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G.E.M., Sijmons, Rolf H., Wagner, Anja, Van Der Kolk, Lizet E., Bjørnevoll, Inga, Høberg Vetti, Hildegunn, van Kessel, Ad Geurts, Kuiper, Roland P., Ligtenberg, Marjolijn J. L., Hoogerbrugge, Nicoline, CMM Groep De Ridder, Cancer, Genetica, UMC Utrecht, Genetica Sectie Oncogenetica, Child Health, Vogelaar, Ingrid P., van der Post, Rachel S., Van Krieken, J. Han J M, Spruijt, Liesbeth, van Zelst-Stams, Wendy A. G., Kets, C. Marleen, Lubinski, Jan, Jakubowska, Anna, Teodorczyk, Urszula, Aalfs, Cora M., Van Hest, Liselotte P., Pinheiro, Hugo, Oliveira, Carla, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R, De Ligt, Joep, Vissers, Lisenka E L M, Hoischen, Alexander, Gilissen, Christian, Van De Vorst, Maartje, Goeman, Jelle J., Schackert, Hans K, Ranzani, Guglielmina N., Molinaro, Valeria, García, Encarna B.Gómez, Hes, Frederik J., Holinski-Feder, Elke, Genuardi, Maurizio, Ausems, Margreet G.E.M., Sijmons, Rolf H., Wagner, Anja, Van Der Kolk, Lizet E., Bjørnevoll, Inga, Høberg Vetti, Hildegunn, van Kessel, Ad Geurts, Kuiper, Roland P., Ligtenberg, Marjolijn J. L., and Hoogerbrugge, Nicoline
Published: 2017

49. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome

Author: van der Klift, Heleen M, Mensenkamp, Arjen R, Drost, Mark, Bik, Elsa C, Vos, Yvonne J, Gille, Hans J J P, Redeker, Bert E J W, Tiersma, Yvonne, Zonneveld, José B M, García, Encarna Gómez, Letteboer, Tom G W, Olderode-Berends, Maran J W, van Hest, Liselotte P, van Os, Theo A, Verhoef, Senno, Wagner, Anja, van Asperen, Christi J, Ten Broeke, Sanne W, Hes, Frederik J, de Wind, Niels, Nielsen, Maartje, Devilee, Peter, Ligtenberg, Marjolijn J L, Wijnen, Juul T, Tops, Carli M J, van der Klift, Heleen M, Mensenkamp, Arjen R, Drost, Mark, Bik, Elsa C, Vos, Yvonne J, Gille, Hans J J P, Redeker, Bert E J W, Tiersma, Yvonne, Zonneveld, José B M, García, Encarna Gómez, Letteboer, Tom G W, Olderode-Berends, Maran J W, van Hest, Liselotte P, van Os, Theo A, Verhoef, Senno, Wagner, Anja, van Asperen, Christi J, Ten Broeke, Sanne W, Hes, Frederik J, de Wind, Niels, Nielsen, Maartje, Devilee, Peter, Ligtenberg, Marjolijn J L, Wijnen, Juul T, and Tops, Carli M J
Published: 2016

50. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome

Author: Genetica Sectie Oncogenetica, Child Health, van der Klift, Heleen M, Mensenkamp, Arjen R, Drost, Mark, Bik, Elsa C, Vos, Yvonne J, Gille, Hans J J P, Redeker, Bert E J W, Tiersma, Yvonne, Zonneveld, José B M, García, Encarna Gómez, Letteboer, Tom G W, Olderode-Berends, Maran J W, van Hest, Liselotte P, van Os, Theo A, Verhoef, Senno, Wagner, Anja, van Asperen, Christi J, Ten Broeke, Sanne W, Hes, Frederik J, de Wind, Niels, Nielsen, Maartje, Devilee, Peter, Ligtenberg, Marjolijn J L, Wijnen, Juul T, Tops, Carli M J, Genetica Sectie Oncogenetica, Child Health, van der Klift, Heleen M, Mensenkamp, Arjen R, Drost, Mark, Bik, Elsa C, Vos, Yvonne J, Gille, Hans J J P, Redeker, Bert E J W, Tiersma, Yvonne, Zonneveld, José B M, García, Encarna Gómez, Letteboer, Tom G W, Olderode-Berends, Maran J W, van Hest, Liselotte P, van Os, Theo A, Verhoef, Senno, Wagner, Anja, van Asperen, Christi J, Ten Broeke, Sanne W, Hes, Frederik J, de Wind, Niels, Nielsen, Maartje, Devilee, Peter, Ligtenberg, Marjolijn J L, Wijnen, Juul T, and Tops, Carli M J
Published: 2016

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