NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas

por Belhadj, Sami, Quintana, Isabel, Mur, Pilar, Munoz-Torres, Pau M., Alonso, M. Henar, Navarro, Matilde, Terradas, Mariona, Piñol, Virginia, Brunet, Joan, Moreno, Victor, Lázaro, Conxi, Capellá, Gabriel, Valle, Laura
Publicado 2019

A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants

por Wiik, Mariann Unhjem, Evans, Tiffany-Jane, Belhadj, Sami, Bolton, Katherine A., Dymerska, Dagmara, Jagmohan-Changur, Shantie, Capellá, Gabriel, Kurzawski, Grzegorz, Wijnen, Juul T., Valle, Laura, Vasen, Hans F. A., Lubinski, Jan, Scott, Rodney J., Talseth-Palmer, Bente A.
Publicado 2021

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

por del Valle, Jesús, Rofes, Paula, Moreno-Cabrera, José Marcos, López-Dóriga, Adriana, Belhadj, Sami, Vargas-Parra, Gardenia, Teulé, Àlex, Cuesta, Raquel, Muñoz, Xavier, Campos, Olga, Salinas, Mónica, de Cid, Rafael, Brunet, Joan, González, Sara, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lídia, Lázaro, Conxi
Publicado 2020

NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects

por Belhadj, Sami, Khurram, Aliya, Bandlamudi, Chaitanya, Palou-Márquez, Guillermo, Ravichandran, Vignesh, Steinsnyder, Zoe, Wildman, Temima, Catchings, Amanda, Kemel, Yelena, Mukherjee, Semanti, Fesko, Benjamin, Arora, Kanika, Mehine, Miika, Dandiker, Sita, Izhar, Aalin, Petrini, John, Domchek, Susan, Nathanson, Katherine L., Brower, Jamie, Couch, Fergus, Stadler, Zsofia, Robson, Mark, Walsh, Michael, Vijai, Joseph, Berger, Michael, Supek, Fran, Karam, Rachid, Topka, Sabine, Offit, Kenneth
Publicado 2023

Role of POLE and POLD1 in familial cancer

por Mur, Pilar, García-Mulero, Sandra, del Valle, Jesús, Magraner-Pardo, Lorena, Vidal, August, Pineda, Marta, Cinnirella, Giacomo, Martín-Ramos, Edgar, Pons, Tirso, López-Doriga, Adriana, Belhadj, Sami, Feliubadaló, Lidia, Munoz-Torres, Pau M., Navarro, Matilde, Grau, Elia, Darder, Esther, Llort, Gemma, Sanz, Judit, Ramón y Cajal, Teresa, Balmana, Judith, Brunet, Joan, Moreno, Victor, Piulats, Josep M., Matías-Guiu, Xavier, Sanz-Pamplona, Rebeca, Aligué, Rosa, Capellá, Gabriel, Lázaro, Conxi, Valle, Laura
Publicado 2020

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

por Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Walker, Logan C.
Publicado 2022