Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 724 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 |
| Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population. Breast cancer research and treatment 2024 12 . Luciana Berlanga, Vanesa Lotersztein, Eliseo I Aranda, Roxana Cerreti |
| IDENTIFICATION OF CLINICALLY RELEVANT GENE VARIANTS IN COLON ADENOCARCINOMA SAMPLES OF UKRAINIAN PATIENTS USING A COMPREHENSIVE CANCER PANEL: A PILOT STUDY. Experimental oncology 2024 12 46 (3): 221-227. G Gerashchenko, R Gulkovskyi, N Melnichuk, N Hryshchenko, T Marchyshak, O Mankovska, A Bezverkhiy, I Kotuza, L Rosha, A Kotuza, Z Tkachuk, V Kashuba, M Tuka |
| 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 |
| Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes. Genetics in medicine open 2024 12 2 101829. Nihat B Agaoglu, Brittany L Bychkovsky, Carolyn Horton, Min-Tzu Lo, Linda Polfus, Cassidy Carraway, Parichehr Hemyari, Colin Young, Marcy E Richardson, Rochelle Scheib, Judy E Garber, Huma Q Ra |
| Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer. JCO precision oncology 2024 12 8 e2400553. Kara K Landry, Michael J DeSarno, Lindsay Kipnis, Farid Barquet Ramos, Katelyn M Breen, Kaleigh Patton, Audrey Morrissette, Ryan M Buehler, Chinedu Ukaegbu, Mersedeh Rohanizadegan, Matthew B Yurgelun, Sapna Syngal, Huma Q Rana, Judy E Garb |
| The molecular landscape of 227 adult granulosa cell tumors of the ovary: Insights into the progression from primary to recurrence. Laboratory investigation; a journal of technical methods and pathology 2024 11 102201. Romana Michálková, Adam Šafanda, Nikola Hájková, Jan Hojný, Eva Krkavcová, Michaela Kendall Bárt?, Marián Švajdler, Tetiana Shatokhina, Jan Laco, Radoslav Mat?j, Gábor Méhes, Jitka Hausnerová, Jozef Škarda, Mária Hácová, Monika Náležinská, Tomáš Zima, Pavel Dundr, Kristýna N?mejco |
| Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye. Cancers 2024 11 16 (22): . Ozkan Ozdemir, Brittany L Bychkovsky, Busra Unal, Gizem Onder, Ufuk Amanvermez, Eylul Aydin, Berk Ergun, Ilayda Sahin, Merve Gokbayrak, Cansu Ugurtas, Merve Nur Koroglu, Berfin Cakir, Irem Kalay, Naci Cine, Ugur Ozbek, Huma Q Rana, Ozden Hatirnaz Ng, Nihat Bugra Agaog |
| Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing. Current issues in molecular biology 2024 11 46 (11): 13003-13020. Valentina Rocca, Elisa Lo Feudo, Francesca Dinatolo, Serena Marianna Lavano, Anna Bilotta, Rosario Amato, Lucia D'Antona, Francesco Trapasso, Francesco Baudi, Emma Colao, Nicola Perrotti, Francesco Paduano, Rodolfo Iulia |
| Homologous recombination deficiency in pancreatic neuroendocrine tumors. Future oncology (London, England) 2024 11 1-10. Camilla Bardasi, Elena Tenedini, Lia Bonamici, Stefania Benatti, Luca Reggiani Bonetti, Gabriele Luppi, Laura Cortesi, Enrico Tagliafico, Massimo Dominici, Fabio Gelsomi |
| 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 |
| Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer. JAMA network open 2025 1 7 (12): e2452158. Anne S Reiner, Gordon P Watt, Kathleen E Malone, Charles F Lynch, Esther M John, Julia A Knight, Meghan Woods, Xiaolin Liang, Marc Tischkowitz, David V Conti, Mark E Robson, Lene Mellemkjær, Sharon N Teraoka, Patrick Concannon, Jonine L Bernste |
| Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population. JCO global oncology 2025 1 11 e2400065. Dione Aguilar, María L Garza-Rodríguez, Diana C Pérez-Ibave, Carolina E Muñiz-Garza, Victor Treviño, Cynthia M Villarreal-Garza, Oscar Vidal-Gutiérrez, Carlos H Burciaga-Flor |
| Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes. JAMA network open 2025 1 8 (1): e2451361. Brittany L Bychkovsky, Nihat B Agaoglu, Carolyn Horton, Linda Polfus, Marcy E Richardson, Colin Young, Rochelle Scheib, Judy E Garber, Huma Q Ra |
| Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population. Breast cancer research : BCR 2025 1 27 (1): 7. Dione Aguilar, María Lourdes Garza-Rodríguez, Carolina Elizabeth Muñiz-Garza, Fernando Alcorta Nuñez, Cynthia Mayte Villarreal-Garza, Oscar Vidal-Gutiérrez, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flor |
| 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 |
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