Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD) von Wimmer, Katharina, Kratz, Christian P, Vasen, Hans F A, Caron, Olivier, Colas, Chrystelle, Entz-Werle, Natacha, Gerdes, Anne-Marie, Goldberg, Yael, Ilencikova, Denisa, Muleris, Martine, Duval, Alex, Lavoine, Noémie, Ruiz-Ponte, Clara, Slavc, Irene, Burkhardt, Brigit, Brugieres, Laurence

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Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring von Guillerm, Erell, Svrcek, Magali, Bardier-Dupas, Armelle, Basset, Noémie, Coulet, Florence, Colas, Chrystelle

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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A p... von Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., Heinimann, Karl

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Clinical implications of CTNNA1 germline mutations in asymptomatic carriers von Benusiglio, Patrick R., Colas, Chrystelle, Guillerm, Erell, Canard, Axelle, Delhomelle, Hélène, Warcoin, Mathilde, Bellanger, Jérôme, Eyries, Mélanie, Zizi, Mohamed, Netter, Jeanne, Soubrier, Florent, Parc, Yann, Mourregot, Anne, Maran Gonzalez, Aurélie, Cusin, Veronica, Denis, Jérôme A., Coupier, Isabelle, Svrcek, Magali, Coulet, Florence

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Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction von Hamzaoui, Nadim, Alarcon, Flora, Leulliot, Nicolas, Guimbaud, Rosine, Buecher, Bruno, Colas, Chrystelle, Corsini, Carole, Nuel, Gregory, Terris, Benoît, Laurent-Puig, Pierre, Chaussade, Stanislas, Dhooge, Marion, Madru, Clément, Clauser, Eric

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“Decoding hereditary breast cancer” benefits and questions from multigene panel testing von Colas, Chrystelle, Golmard, Lisa, de Pauw, Antoine, Caputo, Sandrine M., Stoppa-Lyonnet, Dominique

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Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms von Pegliasco, Jean, Hirsch, Pierre, Marzac, Christophe, Isnard, Françoise, Meniane, Jean-Côme, Deswarte, Caroline, Pellet, Philippe, Lemaitre, Céline, Leroy, Gwendoline, Rabadan Moraes, Graciela, Guermouche, Hélène, Schmaltz-Panneau, Barbara, Pasquier, Florence, Colas, Chrystelle, Benusiglio, Patrick R., Bera, Odile, Bourhis, Jean-Henri, Brissot, Eolia, Caron, Olivier, Chraibi, Samy, Cony-Makhoul, Pascale, Delaunay-Darivon, Christine, Lapusan, Simona, de Fontbrune, Flore Sicre, Fuseau, Pascal, Najman, Albert, Vainchenker, William, Delhommeau, François, Micol, Jean-Baptiste, Plo, Isabelle, Bellanné-Chantelot, Christine

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Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors von Sourrouille, Isabelle, Coulet, Florence, Lefevre, Jeremie H., Colas, Chrystelle, Eyries, Mélanie, Svrcek, Magali, Bardier-Dupas, Armelle, Parc, Yann, Soubrier, Florent

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Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement von Schwartz, Mathias, Ibadioune, Sabrina, Vacher, Sophie, Villy, Marie-Charlotte, Trabelsi-Grati, Olfa, Le Gall, Jessica, Caputo, Sandrine M., Delhomelle, Hélène, Warcoin, Mathilde, Moncoutier, Virginie, Bourneix, Christine, Boutry-Kryza, Nadia, De Pauw, Antoine, Stern, Marc-Henri, Buecher, Bruno, Mouret-Fourme, Emmanuelle, Colas, Chrystelle, Stoppa-Lyonnet, Dominique, Masliah-Planchon, Julien, Golmard, Lisa, Bieche, Ivan

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

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Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants von Gallon, Richard, Brekelmans, Carlijn, Martin, Marie, Bours, Vincent, Schamschula, Esther, Amberger, Albert, Muleris, Martine, Colas, Chrystelle, Dekervel, Jeroen, De Hertogh, Gert, Coupier, Jérôme, Colleye, Orphal, Sepulchre, Edith, Burn, John, Brems, Hilde, Legius, Eric, Wimmer, Katharina

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Screening for Lynch Syndrome in Colorectal Cancer: Are We Doing Enough? von Canard, Guillaume, Lefevre, Jeremie H., Colas, Chrystelle, Coulet, Florence, Svrcek, Magali, Lascols, Olivier, Hamelin, Richard, Shields, Conor, Duval, Alex, Fléjou, Jean-Francois, Soubrier, Florent, Tiret, Emmanuel, Parc, Yann

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No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency von Tesch, Victoria K, IJspeert, Hanna, Raicht, Andrea, Rueda, Daniel, Dominguez-Pinilla, Nerea, Allende, Luis M, Colas, Chrystelle, Rosenbaum, Thorsten, Ilencikova, Denisa, Baris, Hagit N, Nathrath, Michaela H M, Suerink, Manon, Januszkiewicz-Lewandowska, Danuta, Ragab, Iman, Azizi, Amedeo A, Wenzel, Soeren S, Zschocke, Johannes, Schwinger, Wolfgang, Kloor, Matthias, Blattmann, Claudia, Brugieres, Laurence, van der Burg, Mirjam, Wimmer, Katharina, Seidel, Markus G

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Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer von Lefevre, Jérémie H, Bonilla, Carolina, Colas, Chrystelle, Winney, Bruce, Johnstone, Elaine, Tonks, Susan, Day, Tammy, Hutnik, Katarzyna, Boumertit, Abdelhamid, Soubrier, Florent, Midgley, Rachel, Kerr, David, Parc, Yann, Bodmer, Walter F

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French experts report on MUTYH-associated polyposis (MAP) von Buecher, Bruno, Bonaïti, Catherine, Buisine, Marie-Pierre, Colas, Chrystelle, Saurin, Jean-Christophe

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Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes von Frebourg, Thierry, Bajalica Lagercrantz, Svetlana, Oliveira, Carla, Magenheim, Rita, Evans, D Gareth

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Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies von de Pauw, Antoine, Schwartz, Mathias, Colas, Chrystelle, Golmard, Lisa, Stoppa-Lyonnet, Dominique

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Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome von Bonadona, Valérie, Bonaïti, Bernard, Olschwang, Sylviane, Grandjouan, Sophie, Huiart, Laetitia, Longy, Michel, Guimbaud, Rosine, Buecher, Bruno, Bignon, Yves-Jean, Caron, Olivier, Colas, Chrystelle, Noguès, Catherine, Lejeune-Dumoulin, Sophie, Olivier-Faivre, Laurence, Polycarpe-Osaer, Florence, Nguyen, Tan Dat, Desseigne, Françoise, Saurin, Jean-Christophe, Berthet, Pascaline, Leroux, Dominique, Duffour, Jacqueline, Manouvrier, Sylvie, Frébourg, Thierry, Sobol, Hagay, Lasset, Christine, Bonaïti-Pellié, Catherine, French Cancer Genetics Network, for the

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Germline MBD4 Mutations and Predisposition to Uveal Melanoma von Derrien, Anne-Céline, Rodrigues, Manuel, Eeckhoutte, Alexandre, Dayot, Stéphane, Houy, Alexandre, Mobuchon, Lenha, Gardrat, Sophie, Lequin, Delphine, Ballet, Stelly, Pierron, Gaëlle, Alsafadi, Samar, Mariani, Odette, El-Marjou, Ahmed, Matet, Alexandre, Colas, Chrystelle, Cassoux, Nathalie, Stern, Marc-Henri

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Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome von Bouvet, Delphine, Bodo, Sahra, Munier, Annie, Guillerm, Erell, Bertrand, Romane, Colas, Chrystelle, Duval, Alex, Coulet, Florence, Muleris, Martine

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