Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis von Smit, DL, Mensenkamp, AR, Badeloe, S, Breuning, MH, Simon, MEH, Van Spaendonck, KY, Aalfs, CM, Post, JG, Shanley, S, Krapels, IPC, Hoefsloot, LH, Van Moorselaar, RJA, Starink, TM, Bayley, J-P, Frank, J, Van Steensel, MAM, Menko, FH

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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders von Pfundt, Rolph, del Rosario, Marisol, Vissers, Lisenka E.L.M., Kwint, Michael P., Janssen, Irene M., de Leeuw, Nicole, Yntema, Helger G., Nelen, Marcel R., Lugtenberg, Dorien, Kamsteeg, Erik-Jan, Wieskamp, Nienke, Stegmann, Alexander P.A., Stevens, Servi J.C., Rodenburg, Richard J.T., Simons, Annet, Mensenkamp, Arjen R., Rinne, Tuula, Gilissen, Christian, Scheffer, Hans, Veltman, Joris A., Hehir-Kwa, Jayne Y.

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2680 von Yen, C. C., Mensenkamp, L. E.

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521 von Mathews, R. M., Mensenkamp, L. E.

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Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective von Sie, A.S., Mensenkamp, A.R., Adang, E.M.M., Ligtenberg, M.J.L., Hoogerbrugge, N.

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Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families von Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, Arjen R., Adank, Muriel A., Hooning, Maartje J., Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Stommel-Jenner, D.J., de Groot, R., Vieveen, E., Collée, J.M., Geurts-Giele, W., Heemskerk-Gerritsen, B.A.M., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., Wevers, M.R., Mensenkamp, A.R., de Hullu, J.A., Ausems, M.G.E.M., Koudijs, M.J., Koole, W., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., Berger, L.P.V., van der Hout, A.H., de Bock, G.H., Yigit, R., Siesling, S., Verloop, J., Voorham, Q.J.M.

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Genomic instability in non-breast/ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2 von Elze, Lisa, van der Post, Rachel S, Vos, Janet R, Mensenkamp, Arjen R, Pamidimarri Naga, Samhita, Hampstead, Juliet E, Vermeulen, Emma, Oorsprong, Michiel, Hofste, Tom, Simons, Michiel, Nagtegaal, Iris D, Hoogerbrugge, Nicoline, de Voer, Richarda M, Ligtenberg, Marjolijn J L

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Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition von Vos, Janet R, Fakkert, Ingrid E, de Hullu, Joanne A, van Altena, Anne M, Sie, Aisha S, Ouchene, Hicham, Willems, Riki W, Nagtegaal, Iris D, Jongmans, Marjolijn C J, Mensenkamp, Arjen R, Woldringh, Gwendolyn H, Bulten, Johan, Leter, Edward M, Kets, C Marleen, Simons, Michiel, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline

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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders von Naik, Sandhia, Jones, Emma L, Annesi, Grazia, Levy, Emile, Patel, Hetal N, Islam, Suhail A, Bonney, Stephanie A, Jones, Bethan, Myrdal, Urban, Infante, Recaredo, Naoumova, Rossitza P, Quattrone, Aldo, Roy, Claude C, Mensenkamp, Arjen R, Eichenbaum-Voline, Sophie, Shoulders, Carol C, Rudling, Mats, Angelin, Bo, Freemont, Paul S, Meadows, Nigel, Scott, James

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease von Marouane, Abderrahim, Neveling, Kornelia, Deden, A Chantal, van den Heuvel, Simone, Zafeiropoulou, Dimitra, Castelein, Steven, van de Veerdonk, Frank, Koolen, David A, Simons, Annet, Rodenburg, Richard, Westra, Dineke, Mensenkamp, Arjen R, de Leeuw, Nicole, Ligtenberg, Marjolijn, Matthijsse, Rene, Pfundt, Rolph, Kamsteeg, Erik Jan, Brunner, Han G, Gilissen, Christian, Feenstra, Ilse, de Boode, Willem P, Yntema, Helger G, van Zelst-Stams, Wendy A G, Nelen, Marcel, Vissers, Lisenka E L M

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Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1 von 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, Ligtenberg, Marjolijn J.L

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Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome von Hendricks, Linda A J, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Tveit Haavind, Marianne, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran J W, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, Steinke-Lange, Verena, Anastasiadou, Violetta C, Colas, Chrystelle, Villy, Marie-Charlotte, Benusiglio, Patrick R, Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M Omer, van der Post, Rachel S, Schuurs-Hoeijmakers, Janneke H M, Vos, Janet R

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Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset von Davidson, Aimee L., Parsons, Michael T., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Andrulis, Irene L., Antoniou, Antonis C., Behrens, Sabine, Bogdanova, Natalia V., Brüning, Thomas, Castelao, Jose E., Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Olsen, Karina Standahl, Engebråten, Olav, Grenaker Alnæs, Grethe I., Collée, J. Margriet, Eriksson, Mikael, Fasching, Peter A., Gago-Dominguez, Manuela, Glendon, Gord, Grassmann, Felix, Gronwald, Jacek, Guénel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hamann, Ute, Ho, Peh Joo, Hoppe, Reiner, Antill, Yoland, Bogwitz, Michael, Brennan, Meagan, Caldon, Liz, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Dawson, Sarah-Jane, deFazio, Anna, Delatycki, Martin, Dixon, Joanne, Edwards, Stacey, French, Juliet, Gattas, Mike, Greening, Sian, Hart, Stewart, Hayward, Nick, Hopper, John, Jenkins, Mark, Kirk, Judy, Koehler, Jessica, Lakhani, Sunil, Lawrence, Mitchell, Lippey, Jocelyn, Loi, Sherene, McLachlan, Sue Anne, O'Sullivan, Sarah, Pang, Jia-Min, Pathak, Gargi, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ragunathan, Abi, Robinson, Bridget, Saleh, Mona, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Sexton, Adrienne, Shelling, Andrew, Visvader, Jane, Young, Mary Ann, Jakubowska, Anna, Khusnutdinova, Elza K., Kristensen, Vessela N., Lim, Joanna, Liu, Jenny, Lophatananon, Artitaya, Mannermaa, Arto, Mavroudis, Dimitrios A., Mensenkamp, Arjen R., Milne, Roger L., Newman, William G., Panayiotidis, Mihalis I., Park, Sue K., Park-Simon, Tjoung-Won, Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J., Schmidt, Marjanka K., Shah, Mitul, Teo, Soo Hwang, Torres, Diana, Truong, Thérèse, van de Beek, Irma, Wendt, Camilla C., Dunning, Alison M.

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Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome von 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.

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Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers von Vos, Janet R, Oosterwijk, Jan C, Aalfs, Cora M, Rookus, Matti A, Adank, Muriel A, van der Hout, Annemarie H, van Asperen, Christi J, Gómez Garcia, Encarna B, Mensenkamp, Arjen R, Jager, Agnes, Ausems, Margreet G E M, Mourits, Marian J, de Bock, Geertruida H

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Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study von Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Håkan, Mooij, Thea M., Roos-Blom, Marie-José, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Henderson, Alex, Izatt, Louise, Ong, Kai-Ren, Bonadona, Valérie, van Engelen, Klaartje, Menko, Fred H., Mourits, Marian J.E., Singer, Christian F., Tan, Yen Y., Schmutzler, Rita K., Gerdes, Anne-Marie, Simard, Jacques, Rantala, Johanna, Osorio, Ana, Hopper, John L., Beth Terry, Mary, Noguès, Catherine, Engel, Christoph, Kast, Karin, Goldgar, David E., van Leeuwen, Flora E., Easton, Douglas F., Andrieu, Nadine, Rookus, Matti A., Noguès, Catherine, Laborde, Lilian, Pontois, Pauline, Breysse, Emanuelle, Berline, Margot, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Caron, Olivier, Mouret-Fourme, Emmanuelle, Saule, Claire, Fricker, Jean-Pierre, Lasset, Christine, Berthet, Pascaline, Faivre, Laurence, Luporsi, Elisabeth, Gladieff, Laurence, Chieze-Valéro, Stéphanie, Moretta, Jessica, Popovici, Cornel, Longy, Michel, Soubrier, Florent, Coupier, Isabelle, Corsini, Carole, Morin-Meschin, Marie-Emmanuelle, Lortholary, Alain, Adenis, Claude, Maillez, Audrey, Nguyen, Tan Dat, Tennevet, Isabelle, Maugard, Christine, Bignon, Yves-Jean, Gay Bellile, Mathilde, Penet, Clotilde, Dreyfus, Hélène, Cohen-Haguenauer, Odile, Venat-Bouvet, Laurence, Leroux, Dominique, Layet, Valérie, Lacaze, Elodie, Fert-Ferrer, Sandra, Bera, Odile, Tougeron, David, Lallaoui, Hakima, van Leeuwen, F.E., Schmidt, M.K., Jenner, D.J., Collée, J.M., van den Ouweland, A.M.W., Hooning, M.J., Boere, I.A., van Cronenburg, T.C.T.E.F., Wevers, M.R., Mensenkamp, A.R., Ausems, M.G.E.M., van de Beek, I., Gille, J.J.P., Gómez García, E.B., Blok, M.J., de Boer, M., Berger, L.P.V., de Bock, G.H., Siesling, S., Verloop, J., van den Broek, E.C.

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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 von Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel R, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen B M, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K, Evans, D Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve

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Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort von 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, 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., Mensenkamp, Arjen R., Vos, Janet R.

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The Reader Replies von Abbell, Maxwell, Atkins, Paul M., Barker, Leavitt R., Blair, Dorothy, Chalkley, H. W., Cooley, Mary E., Doll, Theodore F., Hall, Alton G., Johnston, Russell Z., Lear, Floyd Seyward, Lewis, Ralph H., Locke, Miriam, McDonald, Georgine B., Mensenkamp, L. E., Metts, D. L., Presson, John M., Prucha, Alma H., Rice, Laban Lacy, Sharp, Russell A., Wellborn, Mildred

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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus von Li, Qiyuan, Andrulis, Irene L., Arndt, Volker, Arver, Brita, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Bisogna, Maria, Bogdanova, Natalia, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bruinsma, Fiona, Buhari, Shaik Ahmad, Burwinkel, Barbara, Campbell, Ian, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Czene, Kamila, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, Dumont, Martine, Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, Foulkes, William D., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Goldgar, David E., González-Neira, Anna, Goodman, Marc T., Guénel, Pascal, Haiman, Christopher A., Hallberg, Emily, Hartman, Mikael, Healey, Sue, Heitz, Florian, Høgdall, Estrid, Hogervorst, Frans B. L., Huzarski, Tomasz, Imyanitov, Evgeny N., John, Esther M., Kapuscinski, Miroslav, Karlan, Beth Y., Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kupryjanczyk, Jolanta, de la Hoya, Miguel, Lambrechts, Diether, De Leeneer, Kim, Li, Jingmei, Lubinski, Jan, Margolin, Sara, McGuffog, Lesley, McNeish, Iain, Meindl, Alfons, Mulligan, Anna Marie, Ness, Roberta B., Neuhausen, Susan L., Odunsi, Kunle, Olah, Edith, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Poole, Elizabeth M., Rantala, Johanna, Risch, Harvey A., Sangrajrang, Suleeporn, Schildkraut, Joellen M., Schmidt, Marjanka K., Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Southey, Melissa C., Stenmark-Askmalm, Marie, Tihomirova, Laima, Tung, Nadine, van Doorn, Helena C., Van't Veer, Laura J., Wentzensen, Nicolas, Wildiers, Hans, Zheng, Wei, Simard, Jacques, Pharoah, Paul D., Chenevix-Trench, Georgia

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