Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 78 Records) |
Query Trace: POLD1[original query] |
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Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers. Journal for immunotherapy of cancer 2021 9 9 (9): . Ying Jieer, Yang Lin, Yin Jiani C, Xia Guojie, Xing Minyan, Chen Xiaoxi, Pang Jiaohui, Wu Yong, Bao Hua, Wu Xue, Shao Yang, Zhu Lingjun, Cheng Xiangdo |
Genetic mutations associated with sensitivity to neoadjuvant chemotherapy in metastatic colon cancer: A case report and review of literature. World journal of clinical cases 2021 9 9 (24): 7099-7109. Zhao Long, Wang Quan, Zhao Shi-Dong, Zhou Jing, Jiang Ke-Wei, Ye Ying-Jiang, Wang Shan, Shen Zhan-Lo |
Germline Alterations in Patients With IBD-associated Colorectal Cancer. Inflammatory bowel diseases 2021 8 28 (3): 447-454. Biscaglia Giuseppe, Latiano Anna, Castellana Stefano, Fontana Rosanna, Gentile Annamaria, Latiano Tiziana, Corritore Giuseppe, Panza Anna, Nardella Marianna, Martino Giuseppina, Bossa Fabrizio, Perri Francesco, Mazza Tommaso, Andriulli Angelo, Palmieri Oraz |
Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes. Clinical genetics 2021 7 100 (4): 478-483. Xavier Alexandre, Scott Rodney J, Talseth-Palmer Ben |
Tumor-Infiltrating Lymphocytes, Tumor Mutational Burden, and Genetic Alterations in Microsatellite Unstable, Microsatellite Stable, or Mutant POLE/POLD1 Colon Cancer. JCO precision oncology 2021 7 5 . Keshinro Ajaratu, Vanderbilt Chad, Kim Jin K, Firat Canan, Chen Chin-Tung, Yaeger Rona, Ganesh Karuna, Segal Neil H, Gonen Mithat, Shia Jinru, Stadler Zsofia, Weiser Martin |
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management. Familial cancer 2021 5 21 (2): 197-209. Palles Claire, Martin Lynn, Domingo Enric, Chegwidden Laura, McGuire Josh, Cuthill Vicky, Heitzer Ellen, , Kerr Rachel, Kerr David, Kearsey Stephen, Clark Susan K, Tomlinson Ian, Latchford Andr |
Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers. Cancers 2021 4 13 (6): . Golubicki Mariano, Díaz-Gay Marcos, Bonjoch Laia, Franch-Expósito Sebastià, Muñoz Jenifer, Cuatrecasas Miriam, Ocaña Teresa, Iseas Soledad, Mendez Guillermo, Carballido Marcela, Robbio Juan, Cisterna Daniel, Roca Enrique, Castells Antoni, Balaguer Francesc, Castellví-Bel Sergi, Antelo Mari |
Incidence, clinicopathologic, and genetic characteristics of mismatch repair gene-mutated glioblastomas. Journal of neuro-oncology 2021 Apr . Cho Yoon Ah, Kim Deokgeun, Lee Boram, Shim Joon Ho, Suh Yeon-L |
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation. Diseases of the colon and rectum 2021 12 65 (6): 793-803. Park Ji Soo, Park Jung Won, Shin Saeam, Lee Seung-Tae, Shin Sang Joon, Min Byung Soh, Park Soo Jung, Park Jae Jun, Cheon Jae Hee, Kim Won Ho, Kim Tae |
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants. Molecular genetics & genomic medicine 2021 10 9 (12): e1831. Dell'Elice Anastasia, Cini Giulia, Fornasarig Mara, Armelao Franco, Barana Daniela, Bianchi Francesca, Casalis Cavalchini Guido Claudio, Maffè Antonella, Mammi Isabella, Pedroni Monica, Percesepe Antonio, Sorrentini Italo, Tibiletti Mariagrazia, Maestro Roberta, Quaia Michele, Viel Alessand |
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer. Cancers 2021 10 13 (20): . Frostberg Erik, Petersen Annabeth Høgh, Bojesen Anders, Rahr Hans Bjarke, Lindebjerg Jan, Rønlund Kari |
Genomic Profiling Reveals the Molecular Landscape of Gastrointestinal Tract Cancers in Chinese Patients. Frontiers in genetics 2021 12 608742. Zhu Chunrong, Zhu Liangjun, Gu Yanhong, Liu Ping, Tong Xiaoling, Wu Guozhong, Zhu Wenyu, Shen Wenxiang, Bao Hua, Ma Xiangyuan, Yu Ruoying, Wu Xue, Zhu Dongqin, Shu Yongqian, Feng Jife |
Genomic Profiling Reveals Novel Predictive Biomarkers for Chemo-Radiotherapy Efficacy and Thoracic Toxicity in Non-Small-Cell Lung Cancer. Frontiers in oncology 2022 12 928605. He Kewen, Zhang Shaotong, Pang Jiaohui, Yin Jiani C, Mu Dianbin, Wang Jun, Ge Hong, Ma Jie, Yang Zhe, Zheng Xiaoli, Dong Lihua, Zhang Junli, Chang Pengyu, Li Li, Tang Shanshan, Bao Hua, Wu Xue, Wang Xiaonan, Shao Yang, Yu Jinming, Yuan Shuang |
Identification of Germline Mutations in Genes Involved in Classic FAP in Patients from Northern Brazil. Cancer diagnosis & prognosis 2022 5 2 (3): 405-410. DI Felipe Ávila Alcantara Diego, Lima Júnior Sergio Figueiredo, DE Assumpção Paulo Pimentel, Lamarão Leticia Martins, DE Castro Sant'anna Carla, Moreira-Nunes Caroline Aquino, Burbano Rommel Rodrigu |
NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability. Cancer medicine 2022 5 11 (13): 2541-2549. Wang Hui, Li Zhi-Wei, Ou Qiuxiang, Wu Xue, Nagasaka Misako, Shao Yang, Ou Sai-Hong Ignatius, Yang |
Mutational analysis of driver genes defines the colorectal adenoma: in situ carcinoma transition. Scientific reports 2022 02 12 (1): 2570. Jungwirth Jiri, Urbanova Marketa, Boot Arnoud, Hosek Petr, Bendova Petra, Siskova Anna, Svec Jiri, Kment Milan, Tumova Daniela, Summerova Sandra, Benes Zdenek, Buchler Tomas, Kohout Pavel, Hucl Tomas, Matej Radoslav, Vodickova Ludmila, van Wezel Tom, Vodicka Pavel, Vymetalkova Veroni |
Oncogenic alterations reveal key strategies for precision oncology in melanoma treatment. Annals of translational medicine 2022 12 10 (22): 1246. Sun Wei, Zhao Fang, Hu Tu, Wu Zhiqiang, Xu Yu, Dong Yan, Zheng Biqiang, Wang Chunmeng, Yan Wangjun, Zhu Xiaoli, Wu Jian, McKay Michael J, Arozarena Imanol, Alos Llucia, Teixido Cristina, Chen Yo |
Molecular characteristics of young-onset colorectal cancer in Vietnamese patients. Asia-Pacific journal of clinical oncology 2022 Jan . Do Minh Duc, Nguyen Thinh Huu, Le Khuong Thai, Le Linh Hoang Gia, Nguyen Bac Hoang, Le Kien Trung, Doan Thao Phuong Thi, Ho Chuong Quoc, Nguyen Hoai-Nghia, Tran Tuan Diep, Vu Hoang A |
Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome. Frontiers in oncology 2023 9 13 1222873. Ying Zhang, Xiaolu Wang, Yuning Zhu, Chong Liang, Lijun Zhao, Qi Meng, Jiani C Yin, Yuqian Shi, Fufeng Wang, Feng Qin, Ji Xu |
The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic. Current issues in molecular biology 2023 8 45 (8): 6383-6394. Airat Bilyalov, Sergey Nikolaev, Anastasiia Danishevich, Igor Khatkov, Komron Makhmudov, Zhainagul Isakova, Nurbek Bakirov, Ernis Omurbaev, Alena Osipova, Ramaldan Ramaldanov, Elena Shagimardanova, Andrey Kiyasov, Oleg Gusev, Natalia Boduno |
Integrating POLE/POLD1 mutated for immunotherapy treatment planning of advanced stage non-small cell lung cancer. Thoracic cancer 2023 6 . Shuhua Zheng, Yenong Cao, James Randall, Haomin Yu, Tarita O Thom |
Germline multigene panel testing of patients with endometrial cancer. Oncology letters 2023 5 25 (6): 216. Jan Kral, Sandra Jelinkova, Petra Zemankova, Michal Vocka, Marianna Borecka, Leona Cerna, Marta Cerna, Lukas Dostalek, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Stepan Chvojka, Marta Kalousova, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Petr Nehasil, Jan Novotny, Barbora Otahalova, Alena Puchmajerova, Marketa Safarikova, Jiri Slama, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Michal Zikan, Tomas Zima, Jana Soukupova, Petra Kleiblova, Zdenek Kleibl, Marketa Janato |
Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing. BMC genomics 2023 4 24 (1): 212. Elena V Demidova, Ilya G Serebriiskii, Ramilia Vlasenkova, Simon Kelow, Mark D Andrake, Tiffiney R Hartman, Tatiana Kent, James Virtucio, Gail L Rosen, Richard T Pomerantz, Roland L Dunbrack, Erica A Golemis, Michael J Hall, David Y T Chen, Mary B Daly, Sanjeevani Aro |
Lynch syndrome: influence of additional susceptibility variants on cancer risk. European journal of human genetics : EJHG 2023 4 . Roseline Vibert, Jasmine Hasnaoui, Alexandre Perrier, Alexandra Lefebvre, Chrystelle Colas, Marion Dhooge, Noémie Basset, Albain Chansavang, Camille Desseignes, Alex Duval, Solenne Farelly, Nadim Hamzaoui, Pierre Laurent-Puig, Julie Metras, Diane Moliere, Martine Muleris, Jeanne Netter, Mehdi Touat, Franck Bielle, Karim Labreche, Romain Nicolle, Géraldine Perkins, Mathilde Warcoin, Florence Coulet, Patrick R Benusigl |
Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis. Digestive diseases and sciences 2023 3 . Zhu Li-Hua, Dong Jian, Li Wen-Liang, Kou Zhi-Yong, Yang J |
Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome. Frontiers in molecular biosciences 2023 2 10 1119900. Bonjoch Laia, Soares de Lima Yasmin, Díaz-Gay Marcos, Dotti Isabella, Muñoz Jenifer, Moreira Leticia, Carballal Sabela, Ocaña Teresa, Cuatrecasas Miriam, Ortiz Oswaldo, Castells Antoni, Pellisé Maria, Balaguer Francesc, Salas Azucena, Alexandrov Ludmil B, Castellví-Bel Ser |
Genomic Characteristics and Its Therapeutic Implications in Breast Cancer Patients with Detectable Molecular Residual Disease. Cancer research and treatment 2023 12 . Shu Zhang, Yan Jiang, Lu Zhou, Jing Xu, Gang Zhang, Lu Shen, Yan |
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ? and ? in glioma families. Acta neuropathologica communications 2023 11 11 (1): 184. Christine A M Weber, Nicole Krönke, Valery Volk, Bernd Auber, Alisa Förster, Detlef Trost, Robert Geffers, Majid Esmaeilzadeh, Michael Lalk, Arya Nabavi, Amir Samii, Joachim K Krauss, Friedrich Feuerhake, Christian Hartmann, Bettina Wiese, Frank Brand, Ruthild G Web |
Whole exome sequencing in Chinese mucinous pulmonary adenocarcinoma uncovers specific genetic variations different from lung adenocarcinoma. Frontiers in oncology 2023 1 12 1054845. Zhang Chenyue, Wang Kai, Liu Wenjie, Lin Jiamao, Li Zhenxiang, Wang Hui, Zhao Chenglong, Chen Yanhua, Wu Shuangxiu, Yang Airong, Wu Jiayan, Wang Haiyo |
Discovery of recessive effect of human polymerase ? proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells. European journal of human genetics : EJHG 2024 4 . Maria A Andrianova, Vladimir B Seplyarskiy, Mariona Terradas, Ana Beatriz Sánchez-Heras, Pilar Mur, José Luis Soto, Gemma Aiza, Emma Borràs, Fyodor A Kondrashov, Alexey S Kondrashov, Georgii A Bazykin, Laura Val |
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- Page last updated:Apr 29, 2024
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