No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Autor: Dominguez-Valentin, Mev, Plazzer, John-Paul, Sampson, Julian R., Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Valle, Adriana Della, Lopez-Kostner, Francisco, Alvarez, Karin, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Nakken, Sigve, Hovig, Eivind, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Alejandra Piñero, Tamara, Pavicic, Walter Hernán, Kalfayan, Pablo, ten Broeke, Sanne W., Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Hopper, John L., Win, Aung Ko, Buchanan, Daniel D., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Hansen, Thomas V. O., Lindberg, Lars, Rødland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Seppälä, Toni T., Møller, Pål

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, pros

Externí odkaz: https://ul.qucosa.de/id/qucosa%3A85197
https://ul.qucosa.de/api/qucosa%3A85197/attachment/ATT-0/

Progress report: Peutz–Jeghers syndrome.

Autor: Jelsig, Anne Marie, Karstensen, John Gásdal, Overeem Hansen, Thomas V.

Publikováno v: Familial Cancer; Nov2024, Vol. 23 Issue 4, p409-417, 9p

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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

Autor: Block, Ines, Mateu-Regué, Àngels, Do, Thi Tuyet Nhu, Miceikaite, Ieva, Sdogati, Daniel, Larsen, Martin J., Hao, Qin, Nielsen, Henriette Roed, Boonen, Susanne E., Skytte, Anne-Bine, Jensen, Uffe Birk, Høffding, Louise K., De Nicolo, Arcangela, Viel, Alessandra, Tudini, Emma, Parsons, Michael T., Hansen, Thomas V. O., Rossing, Maria, Kruse, Torben A., Spurdle, Amanda B.

Publikováno v: Breast Cancer Research; 1/9/2024, Vol. 26 Issue 1, p1-14, 14p

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

Autor: 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, 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., van Engelen, Klaartje, Wevers, Marijke R., 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 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.

Publikováno v: Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame, M A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Hansen, T V O, SWE-BRCA Investigators, KConFab Investigators, HEBON Investigators, Lautrup, C & Pedersen, I S 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, 1061 . https://doi.org/10.1038/s42003-022-03978-6
Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Feliubadaló, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, S A, Gehrig, A, Gesta, P, Godwin, A K, Goldgar, D E, Greene, M H, Hahnen, E, Hake, C R, Hamann, U, Hansen, T V O, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, P J, Imyanitov, E N, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, P A, Janavicius, R, John, E M, Joseph, V, Karlan, B Y, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, P L, Manoukian, S, Mari, V, Martens, J W M, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Yie, J N Y, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Osorio, A, Ott, C-E, Park, S K, Parsons, M T, Pedersen, I S, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, G C, Rønlund, K, Rosenberg, E H, Rossing, M, Schmutzler, R K, Shah, P D, Sharif, S, Sharma, P, Side, L E, Simard, J, Singer, C F, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Thull, D L, Tischkowitz, M, Toland, A E, Trainer, A H, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, E J, Vega, A, Viel, A, Walker, L, Weitzel, J N, Wevers, M R, Chenevix-Trench, G, Spurdle, A B, Antoniou, A C, Walker, L C & GEMO Study Collaborators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, no. 1, 1061, pp. 1061 . https://doi.org/10.1038/s42003-022-03978-6
Communications Biology, 5(1):1061. Nature Publishing Group
Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Feliubadaló, L, Fostira, F, Hansen, T V O, Rossing, C M, GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators & HEBON Investigators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, 1061 . https://doi.org/10.1038/s42003-022-03978-6
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GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, KConFab Investigators & HEBON Investigators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, no. 1, pp. 1061 . https://doi.org/10.1038/s42003-022-03978-6
Communications biology, Berlin : Nature Portfolio, 2022, vol. 5, no. 1, art. no. 1061, p. [1-15]
Communications Biology, 5(1). Springer Nature
Communications biology, 5:1061. Nature Publishing Group

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63f076631390a033b9bcb1c10313c400
https://pure.au.dk/portal/da/publications/copy-number-variants-as-modifiers-of-breast-cancer-risk-for-brca1brca2-pathogenic-variant-carriers(c77e86f3-7589-478f-901e-072c531de0e5).html