Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma

Autor: Yongfeng Bi, Dong Wan, Si Chen, Huafei Chen, Lingchuan Guo, Xiaoshun He, Rong Rong, Jinyuan Xiao, Wei Gao, Sheng Xiao

Publikováno v: Frontiers in Oncology, Vol 14 (2024)

Giant cell glioblastoma often exhibits genome instability and is frequently associated with mutations in genes involved in DNA repair pathways including TP53 and DNA mismatch repair genes. Several germline mutations have been identified in giant cell

Externí odkaz: https://doaj.org/article/f19cc88deb344cccb44be3e5a6c75a9b

Unusual cystic sebaceous neoplasm prompts cascade testing

Autor: Ryan A. Hotchkiss, BS, Felix Yang, BS, Mary Beth Gadarowski, MD, Michael P. Orejudos, MD, Carolyn A. Hardin Robinson, DO

Publikováno v: JAAD Case Reports, Vol 47, Iss , Pp 64-67 (2024)

Externí odkaz: https://doaj.org/article/6d46c87652ce4931a98a314ff58423b0

A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers

Autor: Annmarie Taheny, Haylie McSwaney, Julia Meade

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 22, Iss 1, Pp 1-3 (2024)

Abstract Current National Comprehensive Cancer Network ® (NCCN ®) guidelines for Colorectal Genetic/Familial High-Risk Assessment provide limited guidance for genetic testing for individuals with already diagnosed hereditary cancer conditions. We a

Externí odkaz: https://doaj.org/article/9df8914e58614836b176d74a78105bcf

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

Autor: Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, Petra Kleiblova

Publikováno v: Breast, Vol 75, Iss , Pp 103721- (2024)

Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature

Externí odkaz: https://doaj.org/article/550a6d19812d49439f776d55972c1a43

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival

Autor: Anna Morra, Maartje A. C. Schreurs, Irene L. Andrulis, Hoda Anton‐Culver, Annelie Augustinsson, Matthias W. Beckmann, Sabine Behrens, Stig E. Bojesen, Manjeet K. Bolla, Hiltrud Brauch, Annegien Broeks, Saundra S. Buys, Nicola J. Camp, Jose E. Castelao, Melissa H. Cessna, Jenny Chang‐Claude, Wendy K. Chung, NBCS Collaborators, Sarah V. Colonna, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Joe Dennis, Peter Devilee, Thilo Dörk, Alison M. Dunning, Miriam Dwek, Douglas F. Easton, Diana M. Eccles, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Tanja N. Fehm, Jonine D. Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago‐Dominguez, Montserrat García‐Closas, José A. García‐Sáenz, Jeanine Genkinger, Felix Grassmann, Melanie Gündert, Eric Hahnen, Christopher A. Haiman, Ute Hamann, Patricia A. Harrington, Jaana M. Hartikainen, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, ABCTB Investigators, kConFab Investigators, Anna Jakubowska, Wolfgang Janni, Helena Jernström, Esther M. John, Nichola Johnson, Michael E. Jones, Vessela N. Kristensen, Allison W. Kurian, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubiński, Michael P. Lux, Arto Mannermaa, Dimitrios Mavroudis, Anna Marie Mulligan, Taru A. Muranen, Heli Nevanlinna, Ines Nevelsteen, Patrick Neven, William G. Newman, Nadia Obi, Kenneth Offit, Andrew F. Olshan, Tjoung‐Won Park‐Simon, Alpa V. Patel, Paolo Peterlongo, Kelly‐Anne Phillips, Dijana Plaseska‐Karanfilska, Eric C. Polley, Nadege Presneau, Katri Pylkäs, Brigitte Rack, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Mark Robson, Atocha Romero, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Sabine Schuetze, Christopher Scott, Mitul Shah, Snezhana Smichkoska, Melissa C. Southey, William J. Tapper, Lauren R. Teras, Rob A. E. M. Tollenaar, Katarzyna Tomczyk, Ian Tomlinson, Melissa A. Troester, Celine M. Vachon, Elke M. vanVeen, Qin Wang, Camilla Wendt, Hans Wildiers, Robert Winqvist, Argyrios Ziogas, Per Hall, Paul D. P. Pharoah, Muriel A. Adank, Antoinette Hollestelle, Marjanka K. Schmidt, Maartje J. Hooning

Publikováno v: Cancer Medicine, Vol 12, Iss 15, Pp 16142-16162 (2023)

Abstract Background Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC‐specific survival (BCSS) compared to non‐carriers. Aim To assessed the associations of CHEK2 c.

Externí odkaz: https://doaj.org/article/cc3bc48accce42618076136563685d7b