Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and POLD1[original query] |
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| Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. Journal of medical genetics 2015 Nov . Spier Isabel, Drichel Dmitriy, Kerick Martin, Kirfel Jutta, Horpaopan Sukanya, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Adam Ronja, Zhao Bixiao, Becker Tim, Lifton Richard P, Perner Sven, Hoffmann Per, Kristiansen Glen, Timmermann Bernd, Nöthen Markus M, Holinski-Feder Elke, Schweiger Michal R, Aretz Stef |
| Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas. Gynecologic oncology 2015 Dec . Wong Adele, Kuick Chik Hong, Wong Wai Loong, Tham Jill M, Mansor Sorsiah, Loh Eva, Jain Sudhanshi, Vikas Nadkarni N, Tan Sze Huey, Chan Sock Hoai, Li Shao Tzu, Chew Sung Hock, Hong Wanjin, Ngeow Joan |
| Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing. Scientific reports 2019 7 9 (1): 9814. Lorca Víctor, Rueda Daniel, Martín-Morales Lorena, Fernández-Aceñero María Jesús, Grolleman Judith, Poves Carmen, Llovet Patricia, Tapial Sandra, García-Barberán Vanesa, Sanz Julián, Pérez-Segura Pedro, de Voer Richarda M, Díaz-Rubio Eduardo, de la Hoya Miguel, Caldés Trinidad, Garre Pil |
| Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps. Molecular genetics & genomic medicine 2019 Mar e603. Elsayed Fadwa A, Tops Carli M J, Nielsen Maartje, Ruano Dina, Vasen Hans F A, Morreau Hans, J Hes Frederik, van Wezel T |
| Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes. Hereditary cancer in clinical practice 2019 17 5. Henn Jonas, Spier Isabel, Adam Ronja S, Holzapfel Stefanie, Uhlhaas Siegfried, Kayser Katrin, Plotz Guido, Peters Sophia, Aretz Stef |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer. Annals of oncology : official journal of the European Society for Medical Oncology 2024 5 . M Ambrosini, B Rousseau, P Manca, O Artz, A Marabelle, T André, G Maddalena, G Mazzoli, R Intini, R Cohen, A Cercek, N H Segal, L Saltz, A M Varghese, R Yaeger, M Nusrat, Z Goldberg, G Y Ku, I El Dika, O Margalit, A Grinshpun, P Kasi, R Schilsky, A Lutfi, E Shacham-Shmueli, M Khan Afghan, L Weiss, C B Westphalen, V Conca, B Decker, G Randon, E Elez, M Fakih, A B Schrock, C Cremolini, P Jayachandran, M J Overman, S Lonardi, F Pietranton |
| Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa. Journal of clinical pathology 2024 5 . Alessandro Pietro Aldera, Jana van der Westhuizen, Wan-Jung Tsai, May J Krause, Safiye Yildiz, Komala Pillay, Adam Boutall, Raj Rames |
- Page last reviewed:Feb 1, 2024
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