Human Genome Epidemiology Literature Finder
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Records 1 - 17 (of 17 Records) |
| Query Trace: Colorectal Neoplasms and NTHL1[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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