Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 34 Records) |
Query Trace: Syndrome and POLE[original query] |
---|
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 |
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 |
Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 06 34 (18): 2141-7. Stadler Zsofia K, Battaglin Francesca, Middha Sumit, Hechtman Jaclyn F, Tran Christina, Cercek Andrea, Yaeger Rona, Segal Neil H, Varghese Anna M, Reidy-Lagunes Diane L, Kemeny Nancy E, Salo-Mullen Erin E, Ashraf Asad, Weiser Martin R, Garcia-Aguilar Julio, Robson Mark E, Offit Kenneth, Arcila Maria E, Berger Michael F, Shia Jinru, Solit David B, Saltz Leonard |
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. Scientific reports 2017 May 7 (1): 2214. Khan Nikhat, Lipsa Anuja, Arunachal Gautham, Ramadwar Mukta, Sarin Raj |
Molecular insights into the classification of high-grade endometrial carcinoma. Pathology 2017 12 50 (2): 151-161. Hussein Yaser R, Soslow Robert |
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 |
Impact of Patient Age on Molecular Alterations of Left-Sided Colorectal Tumors. The oncologist 2018 7 24 (3): 319-326. Puccini Alberto, Lenz Heinz-Josef, Marshall John L, Arguello David, Raghavan Derek, Korn W Michael, Weinberg Benjamin A, Poorman Kelsey, Heeke Arielle L, Philip Philip A, Shields Anthony F, Goldberg Richard M, Salem Mohamed |
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes. International journal of cancer 2018 Jul . Kayser Katrin, Degenhardt Franziska, Holzapfel Stefanie, Horpaopan Sukanya, Peters Sophia, Spier Isabel, Morak Monika, Vangala Deepak, Rahner Nils, von Knebel-Doeberitz Magnus, Schackert Hans K, Engel Christoph, Büttner Reinhard, Wijnen Juul, Doerks Tobias, Bork Peer, Moebus Susanne, Herms Stefan, Fischer Sascha, Hoffmann Per, Aretz Stefan, Steinke-Lange Vere |
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 |
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 |
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 |
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 |
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing. Frontiers in oncology 2019 3 9 123. Wang Yao, Yu Mei, Yang Jia-Xin, Cao Dong-Yan, Zhang Ying, Zhou Hui-Mei, Yuan Zhen, Shen Ke |
Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region. Cancer cell international 2019 12 19 334. Siraj Abdul K, Parvathareddy Sandeep Kumar, Bu Rong, Iqbal Kaleem, Siraj Sarah, Masoodi Tariq, Concepcion Rica Micaela, Ghazwani Laila Omar, AlBadawi Ismail, Al-Dayel Fouad, Al-Kuraya Khawla |
Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer. Gynecologic oncology 2019 11 156 (1): 194-202. Stasenko Marina, Tunnage Irina, Ashley Charles W, Rubinstein Maria M, Latham Alicia J, Da Cruz Paula Arnaud, Mueller Jennifer J, Leitao Mario M, Friedman Claire F, Makker Vicky, Soslow Robert A, DeLair Deborah F, Hyman David M, Zamarin Dimitriy, Alektiar Kaled M, Aghajanian Carol A, Abu-Rustum Nadeem R, Weigelt Britta, Cadoo Karen |
Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes. Frontiers in genetics 2020 9 11 991. Xu Yun, Huang Zonghao, Li Cong, Zhu Congcong, Zhang Yuqin, Guo Tian'an, Liu Fangqi, Xu |
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 |
Analysis of 108 patients with endometrial carcinoma using the PROMISE classification and additional genetic analyses for MMR-D. Gynecologic oncology 2020 1 157 (1): 245-251. Timmerman S, Van Rompuy A S, Van Gorp T, Vanden Bempt I, Brems H, Van Nieuwenhuysen E, Han S N, Neven P, Victoor J, Laenen A, Vergote |
New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report. Medicine 2021 6 100 (19): e25864. Akramov Nail R, Shavaliev Rafael F, Osipova Ilsiya |
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 |
Examining the presence and nature of delusions in Alzheimer's disease and frontotemporal dementia syndromes. International journal of geriatric psychiatry 2022 2 37 (3): . Kumfor Fiona, Liang Cheng Tao, Hazelton Jessica L, Leyton Cristian E, Kaizik Cassandra, Devenney Emma, Connaughton Emily, Langdon Robyn, Mioshi Eneida, Kwok John B, Dobson-Stone Carol, Halliday Glenda M, Piguet Olivier, Hodges John R, Landin-Romero Ram |
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 |
Molecular testing of endometrial carcinoma in real-world clinical practice. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2023 6 36 (3): 215-223. M Bedna?íková, J Hausnerová, L Miná?, R Taslerová, P Vinklerová, L Ehrlichová, J Trizuljak, I Blaháková, D Princ, K Matulová, P Ovesná, O Slabý, V Weinberg |
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 |
Endometrial Carcinomas With Subclonal Loss of Mismatch Repair Proteins: A Clinicopathologic and Genomic Study. The American journal of surgical pathology 2023 3 . Mendoza Rachelle P, Wang Peng, Schulte Jefree J, Tjota Melissa Y, Jani Ina, Martinez Anna C, Haridas Rishikesh, Wanjari Pankhuri, Steinhardt George, Brown Noah, Betz Bryan L, Chapel David B, Kertowidjojo Elizabeth, Yamada S D, Bennett Jennifer |
Adoption of Universal Testing in Endometrial Cancers for Microsatellite Instability Using Next-Generation Sequencing. JCO precision oncology 2023 10 7 e2300033. Isabel V Rodriguez, Sarah Strickland, David Wells, Enna Manhardt, Eric Q Konnick, Rochelle Garcia, Elizabeth Swisher, Mark Kilgore, Barbara Norqui |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: