Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 324 Records) |
| Query Trace: Disease and ATM[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 |
| 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 |
| Somatic mutation of targeted sequencing identifies risk stratification in advanced ovarian clear cell carcinoma. Gynecologic oncology 2024 9 191 56-66. Shimeng Wan, Yang Gao, Sisi Wu, Hua Wang, Jiyu Tong, Wei Wei, Hang Ren, Danni Yang, Hao He, Hong Ye, Hongbing C |
| 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 |
| Poor prognosis among radiation associated bladder cancer is defined by clinicogenomic features. Cancer research communications 2024 8 . N Ari Wijetunga, Kathryn H Gessner, Krishna Kanchi, Jay A Moore, Zoe Fleischmann, Dexter X Jin, Garrett M Frampton, Michael Sturdivant, Michael Repka, Shivani Sud, David L Corcoran, Matthew D Galsky, Matthew I Milowsky, Sara E Wobker, William Y Kim, Tracy L Rose, Jeffrey S Damrau |
| 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 |
| Genomic landscape of early-stage prostate adenocarcinoma in Mexican patients: an exploratory study. Discover oncology 2024 8 15 (1): 378. Dennis Cerrato-Izaguirre, Jonathan González-Ruíz, José Diaz-Chavez, Andrea Ramírez, Anna Scavuzzo, Miguel A Jimenez, Carlo Cortés-González, Jairo A Rubio, María D Pérez-Montiel, Claudia M García-Cuellar, Luis A Herrera, Yesennia Sánchez-Pérez, Felipe Vaca-Paniagua, Salim Barquet-Muñoz, David Cantu-de-Leon, Promita Bose, Diddier Pra |
| Correlative Analysis of ATM, RB1, ERCC2, and FANCC Mutations and Pathologic Complete Response After Neoadjuvant Chemotherapy in Patients with Muscle-invasive Bladder Cancer: Results from the SWOG S1314 Trial. European urology 2024 7 . Elizabeth R Plimack, Catherine Tangen, Melissa Plets, Rutika Kokate, Joanne Xiu, Chadi Nabhan, Eric A Ross, Erin Grundy, Woonyoung Choi, Colin P N Dinney, I-Ling C Lee, Megan Fong, M Scott Lucia, Siamak Daneshmand, Dan Theodorescu, Amir Goldkorn, Seth P Lerner, Thomas W Flaig, David J McConk |
| 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 |
| Mutational profile of primary clear cell renal cell carcinoma predicts recurrence and potential candidacy for adjuvant immune checkpoint inhibition. F1000Research 2024 6 12 918. Panagiotis J Vlachostergios, Maria Papathanassiou, Maria Anagnostou, Eleni Thodou, Ioannis Tamposis, Lampros Mitrakas, Ioannis Zachos, George K Koukoulis, Maria Samara, Vassilios Tzortz |
| Assessment of genome mutation analysis for tumor-informed detection of circulating tumor DNA in patients with breast cancer. Clinica chimica acta; international journal of clinical chemistry 2024 6 561 119818. Mugip Rahaman Abdul Wahab, Thirunavukkarasu Palaniyandi, Swarnakala Thamada, Sandhiya Viswanathan, Gomathy Baskar, Hemapreethi Surendran, P Baraneedharan, J Kannan, Maddaly Ravi, Suba Rajinikanth, Mohamed A El-Tayeb, Shaban Sy |
| Synthetic Lethality Beyond BRCA: A Phase I Study of Rucaparib and Irinotecan in Metastatic Solid Tumors With Homologous Recombination-Deficiency Mutations Beyond BRCA1/2. JCO precision oncology 2024 6 8 e2300494. Erica S Tsang, Mallika S Dhawan, Romain Pacaud, Scott Thomas, Jennifer Grabowsky, Lauren Wilch, Silpa Karipineni, Robin Kate Kelley, Andrew H Ko, Eric Collisson, Jocelyn S Chapman, Stefanie Ueda, Emily K Bergsland, Pamela Munst |
| Identification of ATM Mutation as a Potential Prognostic Biomarker for Immune Checkpoint Inhibitors Therapy. Current cancer drug targets 2024 5 24 (5): 501-509. Saijin Cui, Tianyu Chen, Yaning Zhao, Zhuoyun Xiao, Meitong Liu, Xi Huang, Shiru Cao, Rongmiao Zhou, You Li, Xiangran Huo, Na Wa |
| 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 |
| The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia. Molecular biology reports 2024 12 52 (1): 42. Polina Gervas, Aleksey Molokov, Nataliya Babyshkina, Anna Zherebnova, Evgeny Choynzonov, Nadezda Cherdyntse |
| Real-world efficacy and safety of combined first-line treatment with PARP inhibitors and novel hormonal therapy in mCRPC patients with HRR gene mutations. Frontiers in genetics 2024 12 15 1505163. Andong Guo, Chenrui Wu, Jishuang Cao, Kejia Zhu, Sentai Di |
| 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 |
| Phase II Trial of Risk-Enabled Therapy After Neoadjuvant Chemotherapy for Muscle-Invasive Bladder Cancer (RETAIN 1). Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2024 12 JCO2401214. Daniel M Geynisman, Philip H Abbosh, Eric Ross, Matthew R Zibelman, Pooja Ghatalia, Fern Anari, James R Mark, Lambros Stamatakis, Jean H Hoffman-Censits, Rosalia Viterbo, Richard E Greenberg, Thomas M Churilla, Eric M Horwitz, Mark A Hallman, Marc C Smaldone, Robert Uzzo, David Y T Chen, Alexander Kutikov, Elizabeth R Plima |
| 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 |
| Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes. Medicine 2024 11 103 (48): e40684. Huda M AlKreathy, Abdulhhakim A Alzahrani, Ahmed Esmat, Zoheir A Damanhou |
| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101246. Jacquelyn Powers, Heather Wachtel, Erica Trujillo, Heena Desai, Ryan Hausler, Laura Conway, Bradley Wubbenhorst, , , Susan M Domchek, Katherine L Nathanson, Kara N Maxwe |
| 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 |
| CDX2-Suppressed Colorectal Cancers Possess Potentially Targetable Alterations in Receptor Tyrosine Kinases and Other Colorectal-Cancer-Associated Pathways. Diseases (Basel, Switzerland) 2024 10 12 (10): . Ioannis A Voutsadak |
| Genomic signature for oligometastatic disease in non-small cell lung cancer patients with brain metastases. Frontiers in endocrinology 2024 10 15 1364021. Ariel R Choi, Ralph B D'Agostino, Michael K Farris, Mohammed Abdulhaleem, John C Hunting, Yuezhu Wang, Margaret R Smith, Jimmy Ruiz, Thomas W Lycan, W Jeffrey Petty, Christina K Cramer, Stephen B Tatter, Adrian W Laxton, Jaclyn J White, Wencheng Li, Jing Su, Christopher Whitlow, Fei Xing, Michael D Ch |
| 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 |
| Prevalence and outcomes of germline pathogenic variants of homologous recombination repair genes in ovarian cancer. Cancer science 2024 10 . Maiko Miwa, Masakazu Kitagawa, Yuka Asami, Mayumi Kobayashi-Kato, Takafumi Watanabe, Aiko Ogasawara, Kengo Hiranuma, Hisamori Kato, Motonobu Saito, Yohei Miyagi, Tomoyasu Kato, Hiroshi Yoshida, Yukihide Momozawa, Takashi Kohno, Kouya Shiraishi, Kosei Hasega |
| Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing. NPJ genomic medicine 2025 1 10 (1): 1. Deepak N Subramanian, Maia Zethoven, Kathleen I Pishas, Evanny R Marinovi?, Simone McInerny, Simone M Rowley, Prue E Allan, Lisa Devereux, Dane Cheasley, Paul A James, Ian G Campbe |
| 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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