Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Neoplasms and NTHL1[original query] |
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| Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma. Carcinogenesis 2009 Jul 30 (7): 1147-54. Forsbring Monika, Vik Erik S, Dalhus Bjørn, Karlsen Tom H, Bergquist Annika, Schrumpf Erik, Bjørås Magnar, Boberg Kirsten M, Alseth Ingr |
| A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nature genetics 2015 Jun 47 (6): 668-71. Weren Robbert D A, Ligtenberg Marjolijn J L, Kets C Marleen, de Voer Richarda M, Verwiel Eugène T P, Spruijt Liesbeth, van Zelst-Stams Wendy A G, Jongmans Marjolijn C, Gilissen Christian, Hehir-Kwa Jayne Y, Hoischen Alexander, Shendure Jay, Boyle Evan A, Kamping Eveline J, Nagtegaal Iris D, Tops Bastiaan B J, Nagengast Fokko M, Geurts van Kessel Ad, van Krieken J Han J M, Kuiper Roland P, Hoogerbrugge Nicoli |
| 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 |
| Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. Gastroenterology 2016 Oct . Broderick Peter, Dobbins Sara E, Chubb Daniel, Kinnersley Ben, Dunlop Malcolm G, Tomlinson Ian, Houlston Richard |
| 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 |
| NTHL1 and MUTYH polyposis syndromes: two sides of the same coin? The Journal of pathology 2017 11 244 (2): 135-142. Weren Robbert DA, Ligtenberg Marjolijn Jl, Geurts van Kessel Ad, De Voer Richarda M, Hoogerbrugge Nicoline, Kuiper Roland |
| Rare loss of function variants in candidate genes and risk of colorectal cancer. Human genetics 2018 Sep . Rosenthal Elisabeth A, Shirts Brian H, Amendola Laura M, Horike-Pyne Martha, Robertson Peggy D, Hisama Fuki M, Bennett Robin L, Dorschner Michael O, Nickerson Deborah A, Stanaway Ian B, Nassir Rami, Vickers Kathy T, Li Christopher, Grady William M, Peters Ulrike, Jarvik Gail P, |
| 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 |
| Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer. JNCI cancer spectrum 2018 Oct 2 (4): pky054. Toh Ming Ren, Chiang Jian Bang, Chong Siao Ting, Chan Sock Hoai, Ishak Nur Diana Binte, Courtney Eliza, Lee Wei Hao, Syed Abdillah Al Syed Muhammad Fahmy Bin, Carson Allen John, Lim Kiat Hon, Davila Sonia, Tan Patrick, Lim Weng Khong, Tan Iain Bee Huat, Ngeow Joan |
| NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. Scientific reports 2019 6 9 (1): 9020. Belhadj Sami, Quintana Isabel, Mur Pilar, Munoz-Torres Pau M, Alonso M Henar, Navarro Matilde, Terradas Mariona, Piñol Virginia, Brunet Joan, Moreno Victor, Lázaro Conxi, Capellá Gabriel, Valle Lau |
| Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition. Molecular genetics & genomic medicine 2020 Sep e1493. Kumpula Timo, Tervasmäki Anna, Mantere Tuomo, Koivuluoma Susanna, Huilaja Laura, Tasanen Kaisa, Winqvist Robert, de Voer Richarda M, Pylkäs Kat |
| Benign Tumors Associated With Heterozygous NTHL1 Variant. Cureus 2021 8 13 (7): e16220. Anderson Danyon J, Boyle Andrew, Reinicke Trenton, Woods Bison, Hsieh Patri |
| 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 |
| Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population. JCO precision oncology 2021 7 5 . Salo-Mullen Erin E, Maio Anna, Mukherjee Semanti, Bandlamudi Chaitanya, Shia Jinru, Kemel Yelena, Cadoo Karen A, Liu Ying, Carlo Maria, Ranganathan Megha, Kane Sarah, Srinivasan Preethi, Chavan Shweta S, Donoghue Mark T A, Bourque Caitlin, Sheehan Margaret, Tejada Prince Rainier, Patel Zalak, Arnold Angela G, Kennedy Jennifer A, Amoroso Kimberly, Breen Kelsey, Catchings Amanda, Sacca Rosalba, Marcell Vanessa, Markowitz Arnold J, Latham Alicia, Walsh Michael, Misyura Maksym, Ceyhan-Birsoy Ozge, Solit David B, Berger Michael F, Robson Mark E, Taylor Barry S, Offit Kenneth, Mandelker Diana, Stadler Zsofia |
| Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study. NPJ breast cancer 2021 Jun 7 (1): 76. Li Na, Lim Belle W X, Thompson Ella R, McInerny Simone, Zethoven Magnus, Cheasley Dane, Rowley Simone M, Wong-Brown Michelle W, Devereux Lisa, Gorringe Kylie L, Sloan Erica K, Trainer Alison, Scott Rodney J, James Paul A, Campbell Ian |
| Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. Frontiers in oncology 2021 11 649435. Doddato Gabriella, Valentino Floriana, Giliberti Annarita, Papa Filomena Tiziana, Tita Rossella, Bruno Lucia Pia, Resciniti Sara, Fallerini Chiara, Benetti Elisa, Palmieri Maria, Mencarelli Maria Antonietta, Fabbiani Alessandra, Bruttini Mirella, Orrico Alfredo, Baldassarri Margherita, Fava Francesca, Lopergolo Diego, Lo Rizzo Caterina, Lamacchia Vittoria, Mannucci Sara, Pinto Anna Maria, Curr Aurora, Mancini Virginia, , , Mari Francesca, Renieri Alessandra, Ariani Frances |
| Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects. NPJ breast cancer 2021 May 7 (1): 52. Li Na, Zethoven Magnus, McInerny Simone, Devereux Lisa, Huang Yu-Kuan, Thio Niko, Cheasley Dane, Gutiérrez-Enríquez Sara, Moles-Fernández Alejandro, Diez Orland, Nguyen-Dumont Tu, Southey Melissa C, Hopper John L, Simard Jacques, Dumont Martine, Soucy Penny, Meindl Alfons, Schmutzler Rita, Schmidt Marjanka K, Adank Muriel A, Andrulis Irene L, Hahnen Eric, Engel Christoph, Lesueur Fabienne, Girard Elodie, Neuhausen Susan L, Ziv Elad, Allen Jamie, Easton Douglas F, Scott Rodney J, Gorringe Kylie L, James Paul A, Campbell Ian |
| Mouse Embryonic Fibroblasts Isolated From Nthl1 D227Y Knockin Mice Exhibit Defective DNA Repair and Increased Genome Instability. DNA repair 2021 11 109 103247. Marsden Carolyn G, Das Lipsa, Nottoli Timothy P, Kathe Scott D, Doublié Sylvie, Wallace Susan S, Sweasy Joann |
| 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 |
| Second Case of Tumors Associated With Heterozygous NTHL1 Variant. Cureus 2022 8 14 (7): e26734. Anderson Danyon J, Reinicke Trenton, Boyle Andrew W, Porwal Mokshal H, Friedman Allan |
| 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 |
| Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review. Familial cancer 2022 3 21 (4): 453-462. Beck S H, Jelsig A M, Yassin H M, Lindberg L J, Wadt K A W, Karstensen J |
| MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes. European journal of human genetics : EJHG 2023 7 . Mariona Terradas, Noemi Gonzalez-Abuin, Sandra García-Mulero, Julen Viana-Errasti, Gemma Aiza, Josep M Piulats, Joan Brunet, Gabriel Capellá, Laura Val |
| Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases. Frontiers in oncology 2023 3 13 1111191. Alenezi Wejdan M, Fierheller Caitlin T, Serruya Corinne, Revil Timothée, Oros Kathleen K, Subramanian Deepak N, Bruce Jeffrey, Spiegelman Dan, Pugh Trevor, Campbell Ian G, Mes-Masson Anne-Marie, Provencher Diane, Foulkes William D, Haffaf Zaki El, Rouleau Guy, Bouchard Luigi, Greenwood Celia M T, Ragoussis Jiannis, Tonin Patricia |
| 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 |
| NTHL1 is a recessive cancer susceptibility gene. Scientific reports 2023 11 13 (1): 21127. Anna K Nurmi, Liisa M Pelttari, Johanna I Kiiski, Sofia Khan, Mika Nurmikolu, Maija Suvanto, Niina Aho, Tiina Tasmuth, Eija Kalso, Johanna Schleutker, Anne Kallioniemi, Päivi Heikkilä, , Kristiina Aittomäki, Carl Blomqvist, Heli Nevanlin |
| Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients. Genes, chromosomes & cancer 2023 10 . D Terlouw, A Boot, Q R Ducarmon, S Nooij, M A Jessurun, M E van Leerdam, C M Tops, A M J Langers, H Morreau, T van Wezel, M Niels |
| NTHL1 Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background? International journal of molecular sciences 2023 10 24 (19): . Natalia Grot, Marta Kaczmarek-Ry?, Emilia Lis-Tana?, Alicja Kryszczy?ska, Dorota Nowakowska, Anna Jakubiuk-Tomaszuk, Jacek Paszkowski, Tomasz Banasiewicz, Szymon Hryhorowicz, Andrzej P?aws |
| An original cuproptosis-related genes signature effectively influences the prognosis and immune status of head and neck squamous cell carcinoma. Frontiers in genetics 2023 1 13 1084206. Zheng Xiwang, Zhang Chunming, Zheng Defei, Guo Qingbo, Maierhaba Mijiti, Xue Lingbin, Zeng Xianhai, Wu Yongyan, Gao W |
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