Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: Syndrome and POLD1[original query] |
---|
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 2014 Dec 147 (6): 1308-1316.e1. Haraldsdottir Sigurdis, Hampel Heather, Tomsic Jerneja, Frankel Wendy L, Pearlman Rachel, de la Chapelle Albert, Pritchard Colin |
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 |
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 |
Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome. Blood 2016 06 127 (26): 3387-97. Woollard Wesley J, Pullabhatla Venu, Lorenc Anna, Patel Varsha M, Butler Rosie M, Bayega Anthony, Begum Nelema, Bakr Farrah, Dedhia Kiran, Fisher Joshua, Aguilar-Duran Silvia, Flanagan Charlotte, Ghasemi Aria A, Hoffmann Ricarda M, Castillo-Mosquera Nubia, Nuttall Elisabeth A, Paul Arisa, Roberts Ceri A, Solomonidis Emmanouil G, Tarrant Rebecca, Yoxall Antoinette, Beyers Carl Z, Ferreira Silvia, Tosi Isabella, Simpson Michael A, de Rinaldis Emanuele, Mitchell Tracey J, Whittaker Sean |
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 |
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 |
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 |
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 |
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 |
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 |
VUS-type alteration in POLD1 and microsatellite instability in a metastatic luminal B breast cancer patient. Ecancermedicalscience 2020 2 14 1002. da Silva Catarina Marchon, Shimba Denis, Oishi Denise, Cagnacci Allyne, de Gouvea Ana Carolina Ribeiro Chaves, Ades Feli |
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 |
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 |
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 |
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 |
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, 2024
- Page last updated:Apr 22, 2024
- Content source: