HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue. World journal of gastroenterology 2019 Sep 25 (36): 5530-5542. Laquière Arthur E, Lagarde Arnaud, Napoléon Bertrand, Bourdariat Raphaël, Atkinson Alexandre, Donatelli Gianfranco, Pol Bernard, Lecomte Laurence, Curel Laurence, Urena-Campos Romina, Helbert Thierry, Valantin Vincent, Mithieux François, Buono Jean Pascal, Grandval Philippe, Olschwang Sylvia |
| 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 |
| 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 |
| Somatic mutations in early onset luminal breast cancer. Oncotarget 2018 Apr 9 (32): 22460-22479. Encinas Giselly, Sabelnykova Veronica Y, de Lyra Eduardo Carneiro, Hirata Katayama Maria Lucia, Maistro Simone, de Vasconcellos Valle Pedro Wilson Mompean, de Lima Pereira Gláucia Fernanda, Rodrigues Lívia Munhoz, de Menezes Pacheco Serio Pedro Adolpho, de Gouvêa Ana Carolina Ribeiro Chaves, Geyer Felipe Correa, Basso Ricardo Alves, Pasini Fátima Solange, Del Pilar Esteves Diz Maria, Brentani Maria Mitzi, Guedes Sampaio Góes João Carlos, Chammas Roger, Boutros Paul C, Koike Folgueira Maria Aparecida Azeve |
| 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 S, 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 |
| 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 |
| 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 |
| Clinical and Genetic Risk Prediction of Subsequent CNS Tumors in Survivors of Childhood Cancer: A Report From the COG ALTE03N1 Study. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Oct JCO2017747444. Wang Xuexia, Sun Can-Lan, Hageman Lindsey, Smith Kandice, Singh Purnima, Desai Sunil, Hawkins Douglas S, Hudson Melissa M, Mascarenhas Leo, Neglia Joseph P, Oeffinger Kevin C, Ritchey A Kim, Robison Leslie L, Villaluna Doojduen, Landier Wendy, Bhatia Smi |
| Single nucleotide polymorphisms of nucleotide excision repair pathway are significantly associated with outcomes of platinum-based chemotherapy in lung cancer. Scientific reports 2017 Sep 7 (1): 11785. Song Xiao, Wang Shiming, Hong Xuan, Li Xiaoying, Zhao Xueying, Huai Cong, Chen Hongyan, Gao Zhiqiang, Qian Ji, Wang Jiucun, Han Baohui, Bai Chunxue, Li Qiang, Wu Junjie, Lu Da |
| 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 |
| 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 |
| Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. Genetic testing and molecular biomarkers 2016 Oct . Marabelli Monica, Molinaro Valeria, Abou Khouzam Raefa, Berrino Enrico, Panero Mara, Balsamo Antonella, Venesio Tiziana, Ranzani Guglielmina Nad |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Human molecular genetics 2014 Jul 23 (13): 3506-12. Valle Laura, Hernández-Illán Eva, Bellido Fernando, Aiza Gemma, Castillejo Adela, Castillejo María-Isabel, Navarro Matilde, Seguí Nuria, Vargas Gardenia, Guarinos Carla, Juarez Miriam, Sanjuán Xavier, Iglesias Silvia, Alenda Cristina, Egoavil Cecilia, Segura Ángel, Juan María-José, Rodriguez-Soler María, Brunet Joan, González Sara, Jover Rodrigo, Lázaro Conxi, Capellá Gabriel, Pineda Marta, Soto José Luís, Blanco Ignac |
| Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis. Journal of medical genetics 2013 Nov . Hes FJ, Ruano D, Nieuwenhuis M, Tops CM, Schrumpf M, Nielsen M, Huijts PE, Wijnen JT, Wagner A, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, Harryvan J, Kampman E, Morreau H, Vasen HF, van Wezel T |
| Genetic variation in genes encoding for polymerase ? subunits associates with breast cancer risk, tumour characteristics and survival. Breast cancer research and treatment 2011 Aug 129 (1): 235-45. Varadi Verena, Bevier Melanie, Grzybowska Ewa, Johansson Robert, Enquist Kerstin, Henriksson Roger, Butkiewicz Dorota, Pamula-Pilat Jolanta, Tecza Karolina, Hemminki Kari, Lenner Per, Försti As |
| Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer. Carcinogenesis 2011 Jun . Smith TR, Liu-Mares W, Van Emburgh BO, Levine EA, Allen GO, Hill JW, Reis IM, Kresty LA, Pegram MD, Miller MS, Hu JJ |
| Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis 2008 Nov 29 (11): 2132-8. Smith Tasha R, Levine Edward A, Freimanis Rita I, Akman Steven A, Allen Glenn O, Hoang Kimberly N, Liu-Mares Wen, Hu Jennifer |
| Genetic variation in the base excision repair pathway and bladder cancer risk. Human genetics 2007 Apr 121 (2): 233-42. Figueroa Jonine D, Malats Núria, Real Francisco X, Silverman Debra, Kogevinas Manolis, Chanock Stephen, Welch Robert, Dosemeci Mustafa, Tardón Adonina, Serra Consol, Carrato Alfredo, García-Closas Reina, Castaño-Vinyals Gemma, Rothman Nathaniel, García-Closas Montserr |
| Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. BMC cancer 2004 Mar 4 (): 9. Sigurdson Alice J, Hauptmann Michael, Chatterjee Nilanjan, Alexander Bruce H, Doody Michele Morin, Rutter Joni L, Struewing Jeffery |
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- Page last updated:Jan 12, 2022
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