Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 709 Records) |
Query Trace: Neoplasms and CHEK2[original query] |
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Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways. International journal of cancer 2024 9 . Carolina Pires, Inês J Marques, Ana Saramago, Margarida M Moura, Marta Pojo, Rafael Cabrera, Catarina Santos, Francisco Rosário, Diana Lousa, João B Vicente, Tiago M Bandeiras, Manuel R Teixeira, Valeriano Leite, Branca M Cava |
Real world data analysis of next-generation sequencing and corresponding clinical characteristics in thyroid tumor. Endocrine connections 2024 9 . Xu-Feng Chen, Cong He, Peng-Cheng Yu, Wei-Dong Ye, Peizhen Han, Jia-Qian Hu, Yulong Wa |
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer. JAMA network open 2024 9 7 (9): e2431427. Zoulikha Rezoug, Stephanie P Totten, David Szlachtycz, Adrienne Atayan, Kristen Mohler, Sophie Albert, Leila Feng, Brianna Lemieux Anglin, Zhen Shen, Daniel Jimenez, Nancy Hamel, Nicholas Meti, Khashayar Esfahani, Jean-François Boileau, Ipshita Prakash, Mark Basik, Sarkis Meterissian, Francine Tremblay, David Fleiszer, Dawn Anderson, George Chong, Stephanie M Wong, William D Foulk |
The Association Between Breast Cancer Predisposing Genetic Variants and Multifocal, Multicentric Breast Cancer. Annals of surgical oncology 2024 9 . Mahtab Vasigh, Ahmed Mohamed, Lisa Jacobs, Julie Lange, Melissa Camp, Bonnie Sun, Pamela Wright, Maureen O'Donnell, Hanh-Tam Tran, Olutayo Sogunro, Mehran Habibi, Fabian Johnston, David Euh |
Screening Familial Risk for Hereditary Breast and Ovarian Cancer. JAMA network open 2024 9 7 (9): e2435901. Daniel Kiser, Gai Elhanan, Alexandre Bolze, Iva Neveux, Karen A Schlauch, William J Metcalf, Elizabeth T Cirulli, Catherine McCarthy, Leslie A Greenberg, Savanna Grime, Jamie M Schnell Blitstein, William Plauth, Joseph J Grzyms |
Development of a breast cancer risk prediction model integrating monogenic, polygenic, and epidemiologic risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2024 9 . Sarah S Kalia, Nicholas J Boddicker, Siddhartha Yadav, Hongyan Huang, Jie Na, Chunling Hu, Christine B Ambrosone, Song Yao, Christopher A Haiman, Fei Chen, Esther M John, Allison W Kurian, Boya Guo, Sara Lindström, Paul Auer, James V Lacey, Susan L Neuhausen, Maria Elena Martinez, Dale P Sandler, Katie M O'Brien, Jack A Taylor, Lauren R Teras, James M Hodge, Adriana Lori, Clara Bodelon, Amy Trentham-Dietz, Elizabeth S Burnside, Celine M Vachon, Stacey J Winham, David E Goldgar, Susan M Domchek, Katherine L Nathanson, Jeffrey N Weitzel, Fergus J Couch, Peter Kra |
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing - A modeling study based on real-world data. European journal of medical genetics 2024 9 72 104969. Qin Xi, Rahul Patel, Thomas Linton-Willoughby, John Short, Marc Tischkowitz, Katie Snape, Stephen Morr |
Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data. Journal of medical genetics 2024 8 . Toqir K Mukhtar, Naomi Wilcox, Joe Dennis, Xin Yang, Marc Naven, Nasim Mavaddat, John R B Perry, Eugene Gardner, Douglas F East |
DNA-Damaging Therapies in Patients With Prostate Cancer and Pathogenic Alterations in Homologous Recombination Repair Genes. JCO precision oncology 2024 8 8 e2400014. Laura S Graham, Nicholas C Henderson, Olesia Kellezi, Clara Hwang, Pedro C Barata, Mehmet A Bilen, Deepak Kilari, Michael Pierro, Bicky Thapa, Abhishek Tripathi, George Mo, Matthew Labriola, Joseph J Park, Shoshana Rothstein, Rohan Garje, Vadim S Koshkin, Vaibhav G Patel, Tanya Dorff, Andrew J Armstrong, Rana R McKay, Ajjai Alva, Michael T Schweiz |
The guidelines for clinical practice for carriers of germline mutations in hereditary breast, ovarian, prostate, and pancreatic cancer predisposition genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 (4.2024). Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2024 8 38 (4): 292-299. P Kleiblová, J Novotný, D Cibula, V Curtisová, O Dubová, L Foretová, A Germanová, M Janatová, O Havránek, M Hojsáková, M Hudcová, M Koudová, V Krutílková, M Palacova, S Paulich, K Petrakova, J Presl, A Puchmajerová, J Soukupová, M Šenke?íková, Z Šimková, H Št?pánková, I Šubrt, I Tachecí, P Tesner, O Urban, K Veselá, Š Vilímová, Z Vl?ková, M Vo?ka, V Weinberger, M Zikán, M Zimovjanová, Z Klei |
Real-world data on the prevalence of BRCA1/2 and HRR gene mutations in patients with primary and metastatic castration resistant prostate cancer. World journal of urology 2024 8 42 (1): 491. Moritz Hommerding, Oliver Hommerding, Marit Bernhardt, Tobias Kreft, Christine Sanders, Verena Tischler, Patrick Basitta, Natalie Pelusi, Anna-Lena Wulf, Carsten-Henning Ohlmann, Jörg Ellinger, Manuel Ritter, Glen Kristians |
Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening. JCO precision oncology 2024 8 8 e2400094. Kate I Glennon, Mikiko Endo, Yoshiaki Usui, Yusuke Iwasaki, Rodney H Breau, Anil Kapoor, Mark Lathrop, Simon Tanguay, Yukihide Momozawa, Yasser Riazalhossei |
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients. Cancers 2024 7 16 (14): . Ava Kwong, Cecilia Y S Ho, Chun-Hang Au, Edmond S K |
Genomic profiling and comparative analysis of male versus female metastatic breast cancer across subtypes. Breast cancer research : BCR 2024 7 26 (1): 118. Arun Kadamkulam Syriac, Nitish Singh Nandu, Allison Clark, Mehrad Tavallai, Dexter X Jin, Ethan Sokol, Kimberly McGregor, Jeffrey S Ross, Natalie Danziger, Jose Pablo Leo |
Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients. European journal of cancer (Oxford, England : 1990) 2024 7 208 114226. Giulia Orsi, Catia Carconi, Paola Ghiorzo, Paola Carrera, Lorenza Pastorino, Silvia Presi, Marta Chiaravalli, Elena Barbieri, Guido Giordano, Stefania Sciallero, Alberto Puccini, Lisa Salvatore, Laura Cortesi, Marina Macchini, Maria Iole Natalicchio, Eleonora Allavena, Chiara Pirrone, Livia Archibugi, Bruna Dalmasso, William Bruno, Giampaolo Tortora, Matteo Landriscina, Gabriele Capurso, Stefano Cascinu, Massimo Falconi, Michele Re |
A comprehensive analysis of germline predisposition to early-onset ovarian cancer. Scientific reports 2024 7 14 (1): 16183. Klara Horackova, Petra Zemankova, Petr Nehasil, Michal Vocka, Milena Hovhannisyan, Katerina Matejkova, Marketa Janatova, Marta Cerna, Petra Kleiblova, Sandra Jelinkova, Barbora Stastna, Pavel Just, Tatana Dolezalova, Barbora Nemcova, Marketa Urbanova, Monika Koudova, Jana Hazova, Eva Machackova, Lenka Foretova, Viktor Stranecky, Michal Zikan, Zdenek Kleibl, Jana Soukupo |
Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing. World journal of oncology 2024 7 15 (4): 562-578. Alexandra Lebedeva, Egor Veselovsky, Alexandra Kavun, Ekaterina Belova, Tatiana Grigoreva, Pavel Orlov, Anna Subbotovskaya, Maksim Shipunov, Oleg Mashkov, Fanil Bilalov, Peter Shatalov, Andrey Kaprin, Peter Shegai, Zhan Diuzhev, Ochir Migiaev, Natalya Vytnova, Vladislav Mileyko, Maxim Ivan |
Impact of homologous recombination repair/BReast CAncer (BRCA) gene alterations on survival in a real-world setting of metastatic prostate cancer. BJU international 2024 7 . Mike Wenzel, Benedikt Hoeh, Florestan Koll, Clara Humke, Anne Fassl, Henning Reis, Peter Wild, Thomas Steuber, Markus Graefen, Derya Tilki, Miriam Traumann, Severine Banek, Felix K H Chun, Philipp Mand |
Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing. Annals of oncology : official journal of the European Society for Medical Oncology 2024 7 . C F Rowlands, S Allen, J Balmaña, S M Domchek, D G Evans, H Hanson, N Hoogerbrugge, P A James, K Nathanson, M Robson, M Tischkowitz, W D Foulkes, C Turnbu |
Prevalence of pathogenic or likely pathogenic germline variants in cancer predisposition genes among selected patients with lung adenocarcinoma: The GERMLUNG study. Lung cancer (Amsterdam, Netherlands) 2024 6 194 107864. Oscar Arrieta, Enrique Caballé-Pérez, Norma Hernández-Pedro, Eunice Romero-Nuñez, José Lucio-Lozada, Cesar Castillo-Ruiz, Karla Acevedo-Castillo, Rosa María Álvarez-Gómez, Carolina Molina-Garay, Marco Jiménez-Olivares, Karol Carrillo-Sánchez, Elvia Cristina Mendoza-Caamal, Andrés F Cardona, Jordi Remon, Carmen Alaez-Vers |
Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients. Journal of personalized medicine 2024 6 14 (6): . Maria Valeria Freire, Marie Martin, Karin Segers, Edith Sepulchre, Natacha Leroi, Jérôme Coupier, Hassan Rezaei Kalantari, Pascal Wolter, Joëlle Collignon, Marc Polus, Olivier Plomteux, Claire Josse, Vincent Bou |
Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors. Cancer medicine 2024 6 13 (12): e7340. Rebekah M Summey, Erica Gornstein, Brennan Decker, Kali C Dougherty, Janet S Rader, Elizabeth Ho |
Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe. Breast cancer research and treatment 2024 10 . Lalawmpuii Pachuau, H Lalremmawia, Lalengkimi Ralte, Johan Vanlalpeka, Jeremy Lalrinsanga Pautu, Saia Chenkual, Thomas Zomuana, Sailo Tlau Lalruatfela, John Zohmingthanga, Lalchhandama Chhakchhuak, Ashok K Varma, Nachimuthu Senthil Kum |
Genomic ascertainment of CHEK2 -related cancer predisposition. medRxiv : the preprint server for health sciences 2024 10 . Sun Young Kim, Jung Kim, Mark Ramos, Jeremy Haley, Diane Smelser, H Shanker Rao, Uyenlinh L Mirshahi, , Barry I Graubard, Hormuzd A Katki, David Carey, Douglas R Stewa |
Genetic Profiling of Non-Small Cell Lung Cancer in Moroccan Patients by Targeted Next-Generation Sequencing. Technology in cancer research & treatment 2024 10 23 15330338241288907. Sara El Zaitouni, Abdelilah Laraqui, Meriem Ghaouti, Asmae Benzekri, Fouad Kettani, Youssra Boustany, Soukaina Benmokhtar, Hafsa Lamrani Alaoui, Hicham El Annaz, Rachid Abi, Mohamed Rida Tagajdid, Safae El Kochri, Bouchra El Mchichi, El Arbi Bouaiti, Idriss Amine Lahlou, Rabii Ameziane El Hassani, Khalid Enni |
Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers. Revista da Associacao Medica Brasileira (1992) 2024 10 70 (10): e20240534. Ferah Kazanci, Zerrin Y?lmaz Çelik, Mert Polat, Ferhat Karademir, Ozlem Erdem, Feride ?ffet ?ahin, Mehmet Anil On |
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity. NPJ precision oncology 2024 10 8 (1): 235. Ryan D Chow, Katherine L Nathanson, Ravi B Pari |
Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population. medRxiv : the preprint server for health sciences 2024 10 . Mwangala P Akamandisa, Nicholas J Boddicker, Siddhartha Yadav, Chunling Hu, Steven N Hart, Christine Ambrosone, Hoda Anton-Culver, Paul L Auer, Clara Bodelon, Elizabeth S Burnside, Fei Chen, Heather A Eliassen, David E Goldgar, Christopher Haiman, James M Hodge, Hongyan Huang, Esther M John, Rachid Karam, James V Lacey, Sara Lindstroem, Elana Martinez, Jie Na, Susan L Neuhausen, Katie M O'Brien, Janet E Olson, Tuya Pal, Julie R Palmer, Alpa V Patel, Tina Pesaran, Eric C Polley, Marcy E Richardson, Kathryn Ruddy, Dale P Sandler, Lauren R Teras, Amy Trentham-Dietz, Celine M Vachon, Clarice Weinberg, Stacey J Winham, Song Yao, Gary Zirpoli, Peter Kraft, Jeffrey N Weitzel, Susan M Domchek, Fergus J Couch, Katherine L Nathans |
Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma. Frontiers in oncology 2024 10 14 1361928. Yongfeng Bi, Dong Wan, Si Chen, Huafei Chen, Lingchuan Guo, Xiaoshun He, Rong Rong, Jinyuan Xiao, Wei Gao, Sheng Xi |
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