Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 32 Records) |
| Query Trace: Colorectal Neoplasms and POLD1[original query] |
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| Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. International journal of cancer. Journal international du cancer 2015 Jul 137 (2): 320-31. Spier Isabel, Holzapfel Stefanie, Altmüller Janine, Zhao Bixiao, Horpaopan Sukanya, Vogt Stefanie, Chen Sophia, Morak Monika, Raeder Susanne, Kayser Katrin, Stienen Dietlinde, Adam Ronja, Nürnberg Peter, Plotz Guido, Holinski-Feder Elke, Lifton Richard P, Thiele Holger, Hoffmann Per, Steinke Verena, Aretz Stef |
| Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. European journal of human genetics : EJHG 2015 Aug 23 (8): 1080-4. Elsayed Fadwa A, Kets C Marleen, Ruano Dina, van den Akker Brendy, Mensenkamp Arjen R, Schrumpf Melanie, Nielsen Maartje, Wijnen Juul T, Tops Carli M, Ligtenberg Marjolijn J, Vasen Hans F A, Hes Frederik J, Morreau Hans, van Wezel T |
| Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Feb 33 (5): 426-32. Chubb Daniel, Broderick Peter, Frampton Matthew, Kinnersley Ben, Sherborne Amy, Penegar Steven, Lloyd Amy, Ma Yussanne P, Dobbins Sara E, Houlston Richard |
| Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. American journal of human genetics 2016 Aug 99 (2): 337-51. Adam Ronja, Spier Isabel, Zhao Bixiao, Kloth Michael, Marquez Jonathan, Hinrichsen Inga, Kirfel Jutta, Tafazzoli Aylar, Horpaopan Sukanya, Uhlhaas Siegfried, Stienen Dietlinde, Friedrichs Nicolaus, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Kayser Katrin, Thiele Holger, Holinski-Feder Elke, Marra Giancarlo, Kristiansen Glen, Nöthen Markus M, Büttner Reinhard, Möslein Gabriela, Betz Regina C, Brieger Angela, Lifton Richard P, Aretz Stef |
| POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer. Oncotarget 2017 Mar 26732-26743. Esteban-Jurado Clara, Giménez-Zaragoza David, Muñoz Jenifer, Franch-Expósito Sebastià, Álvarez-Barona Miriam, Ocaña Teresa, Cuatrecasas Miriam, Carballal Sabela, López-Cerón María, Marti-Solano Maria, Díaz-Gay Marcos, van Wezel Tom, Castells Antoni, Bujanda Luis, Balmaña Judith, Gonzalo Victoria, Llort Gemma, Ruiz-Ponte Clara, Cubiella Joaquín, Balaguer Francesc, Aligué Rosa, Castellví-Bel Ser |
| Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Genetics in medicine : official journal of the American College of Medical Genetics 2018 08 20 (8): 890-895. Buchanan Daniel D, Stewart Jenna R, Clendenning Mark, Rosty Christophe, Mahmood Khalid, Pope Bernard J, Jenkins Mark A, Hopper John L, Southey Melissa C, Macrae Finlay A, Winship Ingrid M, Win Aung |
| POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas. Diseases of the colon and rectum 2018 09 61 (9): 1073-1079. Rosner Guy, Gluck Nathan, Carmi Shai, Bercovich Dani, Fliss-Issakov Naomi, Ben-Yehoyada Merav, Aharon-Caspi Sivan, Kellerman Efrat, Strul Hana, Shibolet Oren, Kariv Revit |
| Exceptional Chemotherapy Response in Metastatic Colorectal Cancer Associated With Hyper-Indel-Hypermutated Cancer Genome and Comutation of POLD1 and MLH1. JCO precision oncology 2018 7 2017 . Sharma Manish R, Auman James T, Patel Nirali M, Grilley-Olson Juneko E, Zhao Xiaobei, Moschos Stergios J, Parker Joel S, Yin Xiaoying, Hayward Michele C, Polite Blase N, Marangon Elena, Posocco Bianca, Toffoli Giuseppe, Hayes D Neil, Innocenti Federi |
| Detection of Allelic Variants of the POLE and POLD1 Genes in Colorectal Cancer Patients. Balkan journal of medical genetics : BJMG 2018 6 20 (2): 83-88. LA Pätzold, D B?rzi?a, Z Daneberga, J Gardovskis, E Miklaševi |
| Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. Clinical genetics 2018 Feb . Yanus G A, Akhapkina T A, Ivantsov A O, Preobrazhenskaya E V, Aleksakhina S N, Bizin I V, Sokolenko A P, Mitiushkina N V, Kuligina E Sh, Suspitsin E N, Venina A R, Holmatov M M, Zaitseva O A, Yatsuk O S, Pashkov D V, Belyaev A M, Togo A V, Imyanitov E N, Iyevleva A |
| Correction: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Genetics in medicine : official journal of the American College of Medical Genetics 2018 2 20 (10): 1299. Buchanan Daniel D, Stewart Jenna R, Clendenning Mark, Rosty Christophe, Mahmood Khalid, Pope Bernard J, Jenkins Mark A, Hopper John L, Southey Melissa C, Macrae Finlay A, Winship Ingrid M, Win Aung |
| Novel candidates in early-onset familial colorectal cancer. Familial cancer 2019 9 19 (1): 1-10. Jansen Anne M L, Ghosh Pradipta, Dakal Tikam C, Slavin Thomas P, Boland C Richard, Goel Aj |
| Targeted next generation sequencing screening of Lynch syndrome in Tunisian population. Familial cancer 2019 May . Ben Sghaier Rihab, Jansen Anne Maria Lucia, Bdioui Ahlem, Van Wezel Tom, Ksiaa Mehdi, Elgolli Lamia, Ben Fatma Leila, Ben Ahmed Slim, Azzouz Mohamed Msaddak, Hellara Olfa, Elghali Amine, Darbel Fathi, Skandrani Karim, Mokkni Moncef, Gdissa Ameni, Ltaief Rached, Saad Ali, Hmila Fahmi, Gribaa Moez, Morreau Ha |
| 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 |
| Role of POLE and POLD1 in familial cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug . Mur Pilar, García-Mulero Sandra, Del Valle Jesús, Magraner-Pardo Lorena, Vidal August, Pineda Marta, Cinnirella Giacomo, Martín-Ramos Edgar, Pons Tirso, López-Doriga Adriana, Belhadj Sami, Feliubadaló Lidia, Munoz-Torres Pau M, Navarro Matilde, Grau Elia, Darder Esther, Llort Gemma, Sanz Judit, Ramón Y Cajal Teresa, Balmana Judith, Brunet Joan, Moreno Victor, Piulats Josep M, Matías-Guiu Xavier, Sanz-Pamplona Rebeca, Aligué Rosa, Capellá Gabriel, Lázaro Conxi, Valle Lau |
| Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. Genetics in medicine : official journal of the American College of Medical Genetics 2020 5 22 (9): 1533-1541. Hamzaoui Nadim, Alarcon Flora, Leulliot Nicolas, Guimbaud Rosine, Buecher Bruno, Colas Chrystelle, Corsini Carole, Nuel Gregory, Terris Benoît, Laurent-Puig Pierre, Chaussade Stanislas, Dhooge Marion, Madru Clément, Clauser Er |
| Clinicopathological and Molecular Profiles of Sporadic Microsatellite Unstable Colorectal Cancer with or without the CpG Island Methylator Phenotype (CIMP). Cancers 2020 Nov 12 (11): . Chang Shih-Ching, Li Anna Fen-Yau, Lin Pei-Ching, Lin Chun-Chi, Lin Hung-Hsin, Huang Shen-Chieh, Lin Chien-Hsing, Liang Wen-Yi, Chen Wei-Shone, Jiang Jeng-Kai, Lin Jen-Kou, Yang Shung-Haur, Lan Yuan-T |
| 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 |
| 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 |
| Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome. Cancers 2021 3 13 (4): . Soares de Lima Yasmin, Arnau-Collell Coral, Díaz-Gay Marcos, Bonjoch Laia, Franch-Expósito Sebastià, Muñoz Jenifer, Moreira Leticia, Ocaña Teresa, Cuatrecasas Miriam, Herrera-Pariente Cristina, Carballal Sabela, Moreno Lorena, Díaz de Bustamante Aránzazu, Castells Antoni, Bujanda Luis, Cubiella Joaquín, Rodríguez-Alcalde Daniel, Balaguer Francesc, Castellví-Bel Ser |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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