Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring

by Guillerm, Erell, Svrcek, Magali, Bardier-Dupas, Armelle, Basset, Noémie, Coulet, Florence, Colas, Chrystelle
Published in European journal of human genetics : EJHG

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...

by 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
Published in Genetics in medicine

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers

by 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
Published in Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction

by 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
Published in Genetics in medicine

“Decoding hereditary breast cancer” benefits and questions from multigene panel testing

by Colas, Chrystelle, Golmard, Lisa, de Pauw, Antoine, Caputo, Sandrine M., Stoppa-Lyonnet, Dominique
Published in Breast (Edinburgh)

Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

by 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
Published in Leukemia

Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement

by 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
Published in Breast (Edinburgh)

Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors

by Sourrouille, Isabelle, Coulet, Florence, Lefevre, Jeremie H., Colas, Chrystelle, Eyries, Mélanie, Svrcek, Magali, Bardier-Dupas, Armelle, Parc, Yann, Soubrier, Florent
Published in Familial cancer

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

by 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
Published in Breast (Edinburgh)

Screening for Lynch Syndrome in Colorectal Cancer: Are We Doing Enough?

by 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
Published in Annals of surgical oncology

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

by 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
Published in Frontiers in immunology

Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer

by 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
Published in Journal of human genetics

French experts report on MUTYH-associated polyposis (MAP)

by Buecher, Bruno, Bonaïti, Catherine, Buisine, Marie-Pierre, Colas, Chrystelle, Saurin, Jean-Christophe
Published in Familial cancer

Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

by Frebourg, Thierry, Bajalica Lagercrantz, Svetlana, Oliveira, Carla, Magenheim, Rita, Evans, D Gareth
Published in European journal of human genetics : EJHG

Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies

by de Pauw, Antoine, Schwartz, Mathias, Colas, Chrystelle, Golmard, Lisa, Stoppa-Lyonnet, Dominique
Published in European journal of cancer (1990)

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

by 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
Published in JAMA : the journal of the American Medical Association

Germline MBD4 Mutations and Predisposition to Uveal Melanoma

by 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
Published in JNCI : Journal of the National Cancer Institute

The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors

by Marisa, Laetitia, Svrcek, Magali, Collura, Ada, Becht, Etienne, Cervera, Pascale, Wanherdrick, Kristell, Buhard, Olivier, Goloudina, Anastasia, Jonchère, Vincent, Selves, Janick, Milano, Gerard, Guenot, Dominique, Cohen, Romain, Colas, Chrystelle, Laurent-Puig, Pierre, Olschwang, Sylviane, Lefèvre, Jérémie H, Parc, Yann, Boige, Valérie, Lepage, Côme, André, Thierry, Fléjou, Jean-François, Dérangère, Valentin, Ghiringhelli, François, de Reynies, Aurélien, Duval, Alex
Published in JNCI : Journal of the National Cancer Institute

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

by Barnes, Daniel R., Rookus, Matti A., Dennis, Joe, Mavaddat, Nasim, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Białkowska, Katarzyna, Blok, Marinus J., Bonanni, Bernardo, Bozsik, Aniko, Buys, Saundra S., Caldés, Trinidad, Campbell, Ian, Christensen, Lise Lotte, Colas, Chrystelle, Berthet, Pascaline, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mebirouk, Noura, Adlard, Julian, Antoniou, Antonis, Brennan, Paul, Brewer, Carole, Cook, Jackie, Easton, Douglas, Eeles, Ros, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, O’Shaughnessy-Kirwan, Aoife, Daly, Mary B., Davidson, Rosemarie, Ding, Yuan Chun, Dorfling, Cecilia M., Engel, Christoph, Evans, D. Gareth, Friedlander, Michael, Friedman, Eitan, Ganz, Patricia A., Gerdes, Anne-Marie, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Gschwantler-Kaulich, Daphne, Hamann, Ute, Hu, Chunling, Hulick, Peter J., Hogervorst, Frans, Koudijs, Marco, Kruse, Torben A., Lazaro, Conxi, Lester, Jenny, Mai, Phuong L., Mari, Véronique, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Montagna, Marco, Mukherjee, Semanti, Mulligan, Anna Marie, Nevanlinna, Heli, Niederacher, Dieter, Olopade, Olufunmilayo I., Ott, Claus-Eric, Papi, Laura, Park, Sue K., Peissel, Bernard, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Schuster, Hélène, Senter, Leigha, Side, Lucy E., Slavin, Thomas P., Soucy, Penny, Sutter, Christian, Thull, Darcy L., Toland, Amanda E., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Wang-Gohrke, Shan, Wappenschmidt, Barbara, Yang, Xin, Zimbalatti, Dario, Offit, Kenneth, Couch, Fergus J., Schmutzler, Rita K., Antoniou, Antonis C.
Published in Genetics in medicine

Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients

by Bonilla, Carolina, Lefèvre, Jérémie H, Winney, Bruce, Johnstone, Elaine, Tonks, Susan, Colas, Chrystelle, Day, Tammy, Hutnik, Katarzyna, Boumertit, Abdelhamid, Midgley, Rachel, Kerr, David, Parc, Yann, Bodmer, Walter F
Published in Journal of human genetics