HuGE Literature Finder
Records 1-30
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Tumour mutational burden, microsatellite instability, and actionable alterations in metastatic colorectal cancer: Next-generation sequencing results of TRIBE2 study.
European journal of cancer (Oxford, England : 1990) 2021 Aug 155 73-84. Antoniotti Carlotta, Korn W Michael, Marmorino Federica, Rossini Daniele, Lonardi Sara, Masi Gianluca, Randon Giovanni, Conca Veronica, Boccaccino Alessandra, Tomasello Gianluca, Passardi Alessandro, Swensen Jeff, Ugolini Clara, Oberley Matthew, Tamburini Emiliano, Casagrande Mariaelena, Domenyuk Valeriy, Fontanini Gabriella, Giordano Mirella, Abraham Jim, Spetzler David, Falcone Alfredo, Lenz Heinz-Josef, Cremolini Chia |
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Clinical and epigenetic features of colorectal cancer patients with somatic POLE proofreading mutations.
Clinical epigenetics 2021 May 13 (1): 117. Kawai Takashi, Nyuya Akihiro, Mori Yoshiko, Tanaka Takehiro, Tanioka Hiroaki, Yasui Kazuya, Toshima Toshiaki, Taniguchi Fumitaka, Shigeyasu Kunitoshi, Umeda Yuzo, Fujiwara Toshiyoshi, Okawaki Makoto, Yamaguchi Yoshiyuki, Goel Ajay, Nagasaka Takes |
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High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.
Experimental & molecular medicine 2021 Mar 53 (3): 446-456. Kim Jeong Eun, Choi Jaeyong, Sung Chang-Ohk, Hong Yong Sang, Kim Sun Young, Lee Hyunjung, Kim Tae Won, Kim Jong- |
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Germline RAD54L with somatic POLE defect implicated in Hypermutation phenotype: case report.
BMC gastroenterology 2020 Aug 20 (1): 255. Zohud Bisan Abdalfatah, Wang Meiling, Cai X |
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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 |
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Genomic Alterations of NTRK, POLE, ERBB2, and Microsatellite Instability Status in Chinese Patients with Colorectal Cancer.
The oncologist 2020 Jul . Guo Yun, Guo Xian-Ling, Wang Shuang, Chen Xinyu, Shi Jiaochun, Wang Jian, Wang Kai, Klempner Samuel J, Wang Weifeng, Xiao M |
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Homologous Recombination Repair Truncations Predict Hypermutation in Microsatellite Stable Colorectal and Endometrial Tumors.
Clinical and translational gastroenterology 2020 Mar 11 (3): e00149. Lee Minyi, Eng George, Barbari Stephanie R, Deshpande Vikram, Shcherbakova Polina V, Gala Manish |
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Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene.
Cancer medicine 2019 Jun . Hino Hitoshi, Shiomi Akio, Kusuhara Masatoshi, Kagawa Hiroyasu, Yamakawa Yushi, Hatakeyama Keiichi, Kawabata Takanori, Oishi Takuma, Urakami Kenichi, Nagashima Takeshi, Kinugasa Yusuke, Yamaguchi K |
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Mutation analysis of POLE gene in patients with early-onset colorectal cancer revealed a rare silent variant within the endonuclease domain with potential effect on splicing.
Clinical and experimental medicine 2019 May . Lasabová Zora, Kalman Michal, Holubeková Veronika, Grendár Marián, Kašubová Ivana, Jašek Karin, Meršaková Sandra, Malicherová Bibiana, Baranenko Denis, Adamek Mariusz, Kruzliak Peter, Plank Luk |
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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 |
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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 |
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A novel 4-gene prognostic signature for hypermutated colorectal cancer.
Cancer management and research 2019 11 1985-1996. Ge Weiting, Cai Wen, Bai Rui, Hu Wangxiong, Wu Dehao, Zheng Shu, Hu Hangua |
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Lack of APC somatic mutation is associated with early-onset colorectal cancer in African Americans.
Carcinogenesis 2018 Sep . Xicola Rosa M, Manojlovic Zarko, Augustus Gaius J, Kupfer Sonia S, Emmadi Rajyasree, Alagiozian-Angelova Victoria, Triche Tim, Salhia Bodour, Carpten John, Llor Xavier, Ellis Nathan |
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POLE gene hotspot mutations in advanced pancreatic cancer.
Journal of cancer research and clinical oncology 2018 Sep . Guenther Michael, Veninga Vivien, Kumbrink Joerg, Haas Michael, Westphalen C Benedikt, Kruger Stephan, Heinemann Volker, Kirchner Thomas, Boeck Stefan, Jung Andreas, Ormanns Steff |
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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 |
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Molecular Subtypes and the Evolution of Treatment Decisions in Metastatic Colorectal Cancer.
American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting 2018 May (38): 231-238. Dienstmann Rodrigo, Salazar Ramon, Tabernero Jos |
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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 |
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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 |
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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 |
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Molecular profiling of metastatic colorectal tumors using next-generation sequencing: a single-institution experience.
Oncotarget 2017 Feb . Gong Jun, Cho May, Sy Marvin, Salgia Ravi, Fakih Marw |
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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.
Oncotarget 2016 Sep . Ahn Sung-Min, Ansari Adnan Ahmad, Kim Jihun, Kim Deokhoon, Chun Sung-Min, Kim Jiyun, Kim Tae Won, Park Inja, Yu Chang-Sik, Jang Se J |
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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 |
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Increased incidence of FBXW7 and POLE proofreading domain mutations in young adult colorectal cancers.
Cancer 2016 May . Kothari Nishi, Teer Jamie K, Abbott Andrea M, Srikumar Thejal, Zhang Yonghong, Yoder Sean J, Brohl Andrew S, Kim Richard D, Reed Damon R, Shibata Dav |
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Whole-Exome Sequencing Analyses of Inflammatory Bowel Disease-Associated Colorectal Cancers.
Gastroenterology 2016 Jan . Robles Ana I, Traverso Giovanni, Zhang Ming, Roberts Nicholas J, Khan Mohammed A, Joseph Christine, Lauwers Gregory Y, Selaru Florin M, Popoli Maria, Pittman Meredith E, Ke Xiquan, Hruban Ralph H, Meltzer Stephen J, Kinzler Kenneth W, Vogelstein Bert, Harris Curtis C, Papadopoulos Nickol |
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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 |
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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 |
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POLE mutations in families predisposed to cutaneous melanoma.
Familial cancer 2015 Aug . Aoude Lauren G, Heitzer Ellen, Johansson Peter, Gartside Michael, Wadt Karin, Pritchard Antonia L, Palmer Jane M, Symmons Judith, Gerdes Anne-Marie, Montgomery Grant W, Martin Nicholas G, Tomlinson Ian, Kearsey Stephen, Hayward Nicholas |
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CTCF/cohesin-binding sites are frequently mutated in cancer.
Nature genetics 2015 Jul 47 (7): 818-21. Katainen Riku, Dave Kashyap, Pitkänen Esa, Palin Kimmo, Kivioja Teemu, Välimäki Niko, Gylfe Alexandra E, Ristolainen Heikki, Hänninen Ulrika A, Cajuso Tatiana, Kondelin Johanna, Tanskanen Tomas, Mecklin Jukka-Pekka, Järvinen Heikki, Renkonen-Sinisalo Laura, Lepistö Anna, Kaasinen Eevi, Kilpivaara Outi, Tuupanen Sari, Enge Martin, Taipale Jussi, Aaltonen Lauri |
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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 |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Sep 23, 2021
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