Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 180 Records) |
| Query Trace: Disease and CHEK2[original query] |
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| Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations. American journal of human genetics 2023 9 . Wenlong Carl Chen, Jean-Tristan Brandenburg, Ananyo Choudhury, Mahtaab Hayat, Dhriti Sengupta, Yaniv Swiel, Chantal Babb de Villiers, Lucien Ferndale, Colleen Aldous, Cassandra C Soo, Sang Lee, Charles Curtis, Rob Newton, Tim Waterboer, Freddy Sitas, Debbie Bradshaw, Christian C Abnet, Michele Ramsay, M Iqbal Parker, Elvira Singh, Cathryn M Lewis, Christopher G Math |
| Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans. Molecular genetics & genomic medicine 2023 12 e2332. Oscar Alonso-Luna, Gabriela E Mercado-Celis, Jorge Melendez-Zajgla, Rodrigo Barquera, Marta Zapata-Tarres, Luis Enrique Juárez-Villegas, Elvia Cristina Mendoza-Caamal, Elianeth Rey-Helo, Socorro Aida Borges-Yañ |
| Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants. Breast cancer research and treatment 2023 12 . Christopher J Schwartz, Nikka Khorsandi, Amie Blanco, Rita A Mukhtar, Yunn-Yi Chen, Gregor Krin |
| The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families. Breast (Edinburgh, Scotland) 2023 12 73 103611. Maartje A C Schreurs, Teresa Ramón Y Cajal, Muriel A Adank, J Margriet Collée, Antoinette Hollestelle, Jeroen van Rooij, Marjanka K Schmidt, Maartje J Hooni |
| Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway. Clinical & experimental ophthalmology 2023 10 . Manuel Pérez-Pérez, Alessandro Agostino, Carmen García de Sola-Llamas, Michael Ruvolo, Angel Vilches-Arenas, M Isabel Relimpio-López, Francisco Espejo-Arjona, Laura Macías-García, Manuel De Miguel-Rodríguez, Antonio García-Escudero, Miguel A Idoate, Juan J Ríos-Mart |
| Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls. Frontiers in genetics 2023 10 14 1248492. Maria Zanti, Maria A Loizidou, Denise G O'Mahony, Leila Dorling, Joe Dennis, Peter Devilee, Douglas F Easton, Mihalis I Panayiotidis, Andreas Hadjisavvas, Kyriaki Michailid |
| Genomic ancestry in kidney cancer: Correlations with clinical and molecular features. Cancer 2023 10 . Ritesh R Kotecha, Andrea Knezevic, Kanika Arora, Chaitanya Bandlamudi, Fengshen Kuo, Maria I Carlo, Kelly N Fitzgerald, Darren R Feldman, Neil J Shah, Ed Reznik, A Ari Hakimi, Jian Carrot-Zhang, Diana Mandelker, Michael Berger, Chung-Han Lee, Robert J Motzer, Martin H Vo |
| Efficacy of olaparib in advanced cancers with germline or somatic mutations in BRCA1, BRCA2, CHEK2 and ATM, a Belgian Precision tumor-agnostic phase II study. ESMO open 2023 10 8 (6): 102041. S Joris, H Denys, J Collignon, M Rasschaert, D T'Kint de Roodenbeke, F P Duhoux, J-L Canon, S Tejpar, J Mebis, L Decoster, P Aftimos, J De Grè |
| 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 |
| 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 |
| 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 |
| Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants. Genetics in medicine : official journal of the American College of Medical Genetics 2024 8 101225. Amir Hossein Saeidian, Michael E March, Leila Youssefian, Deborah J Watson, Esha Bhandari, Xiang Wang, Xiaonan Zhao, Nichole Marie Owen, Alanna Strong, Margaret H Harr, , Elizabeth Bhoj, Elaine Zackai, Hassan Vahidnezhad, Johann Gudjonsson, Stephen D Cederbaum, Joshua L Deignan, Joseph Glessner, Wayne W Grody, Hakon Hakonars |
| 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 |
| The Impact of Li Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes and Genetic Testing Recommendations. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 . Josephine K Dermawan, David H Abramson, Sarah Chiang, Martee L Hensley, William D Tap, Sujana Movva, Robert G Maki, Diana Mandelker, Cristina R Antones |
| 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 |
| Clonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantation. Pediatric hematology and oncology 2024 6 1-10. Mutlu Kartal-Kaess, Axel Karow, Ulrike Bacher, Thomas Pabst, Raphael Joncourt, Christiane Zweier, Claudia E Kuehni, Naomi Azur Porret, Jochen Roessl |
| DNA Checkpoint Gene Mutation as a Biomarker for Immune Checkpoint Inhibitor Therapy in Advanced Biliary Tract Cancer. Anticancer research 2024 4 44 (5): 2103-2108. Ji Eun Shin, Seung Tae K |
| Real-world evaluation of deep learning algorithms to classify functional pathogenic germline variants. medRxiv : the preprint server for health sciences 2024 4 . Ryan D Chow, Ravi B Parikh, Katherine L Nathans |
| Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. International journal of molecular sciences 2024 12 25 (23): . Petra Nagy, János Papp, Vince Kornél Grolmusz, Anikó Bozsik, Tímea Pócza, Edit Oláh, Attila Patócs, Henriett Bu |
| Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans. Genetics in medicine open 2024 12 2 101895. Michael R Sargen, Jung Kim, Jeremy S Haley, Hayley P Barker, Piyushkumar A Mundra, Mandy L Ballinger, David M Thomas, David J Carey, Alisa M Goldstein, Douglas R Stewa |
| 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 |
| 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 |
| Histologic patterns in prostatic adenocarcinoma are not predictive of mutations in the homologous recombination repair pathway. Human pathology 2024 1 . Jon Mahlow, Marc Barry, Daniel J Albertson, Yeon Jung Jo, Michael Balatico, Tori Seasor, Georges Gebrael, Shruti A Kumar, Nicolas Sayegh, Nishita Tripathi, Neeraj Agarwal, Umang Swami, Deepika Siro |
| Upgrade Rates and Breast Cancer Development Among Germline Pathogenic Variant Carriers with High-Risk Breast Lesions. Annals of surgical oncology 2024 1 . Alison Laws, Saskia Leonard, Emma Hershey, Samantha Stokes, Julie Vincuilla, Eshita Sharma, Kara Milliron, Judy E Garber, Sofia D Merajver, Tari A King, Melissa L Pilewsk |
| Germline DNA Damage Response Gene Mutations in Localized Prostate Cancer. Medicina (Kaunas, Lithuania) 2024 1 60 (1): . Tomas Januskevicius, Ieva Vaicekauskaite, Rasa Sabaliauskaite, Augustinas Matulevicius, Alvydas Vezelis, Albertas Ulys, Sonata Jarmalaite, Feliksas Jankevici |
| Genetic predisposition to differentiated thyroid cancer among Polish population. Polish archives of internal medicine 2024 1 . Martyna Borowczyk, Mateusz Sypniewski, Joanna Szyda, Ma?gorzata Braszka, Katarzyna Ziemnicka, Marek Rucha?a, Michalina Oszywa, Zbigniew J Król, Paula Dobo |
| Checkpoint Kinase 2 (CHEK2) Gene Mutation in a Patient With Breast and Prostate Cancer: A Unique Presentation of a Rare Disease. Cureus 2024 1 15 (11): e49710. Samar N Ekram, Nasser Al Shanbari, Bassam M Bin Laswad, Abdulrahman Alharthi, Waseem Tayeb, Abdulbari Bah |
| GERMLINE PATHOGENIC VARIANTS IN PATIENTS WITH PANCREATIC DUCTAL ADENOCARCINOMA AND EXTRA-PANCREATIC MALIGNANCIES: A NATIONWIDE DATABASE ANALYSIS. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2025 1 100709. Valentyna Kryklyva, Michael J Pflüger, Hicham Ouchene, Hanneke Volleberg-Gorissen, Arjen R Mensenkamp, Marianne A Jonker, Carlijn van de Water, Iris D Nagtegaal, Marjolijn J L Ligtenberg, Lodewijk A A Brose |
- Page last reviewed:Feb 1, 2024
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