Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: NTHL1[original query] |
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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, |
Defective repair capacity of variant proteins of the DNA glycosylase NTHL1 for 5-hydroxyuracil, an oxidation product of cytosine. Free radical biology & medicine 2018 12 131 264-273. Shinmura Kazuya, Kato Hisami, Kawanishi Yuichi, Goto Masanori, Tao Hong, Yoshimura Katsuhiro, Nakamura Satoki, Misawa Kiyoshi, Sugimura Haruhi |
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients. European journal of human genetics : EJHG 2018 1 26 (3): 387-395. Ciavarella Michele, Miccoli Sara, Prossomariti Anna, Pippucci Tommaso, Bonora Elena, Buscherini Francesco, Palombo Flavia, Zuntini Roberta, Balbi Tiziana, Ceccarelli Claudio, Bazzoli Franco, Ricciardiello Luigi, Turchetti Daniela, Piazzi Giul |
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 |
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 |
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes. Human mutation 2019 Jun . Terradas Mariona, Munoz-Torres Pau M, Belhadj Sami, Aiza Gemma, Navarro Matilde, Brunet Joan, Capellá Gabriel, Valle Lau |
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 |
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants. Molecular genetics & genomic medicine 2021 10 9 (12): e1831. Dell'Elice Anastasia, Cini Giulia, Fornasarig Mara, Armelao Franco, Barana Daniela, Bianchi Francesca, Casalis Cavalchini Guido Claudio, Maffè Antonella, Mammi Isabella, Pedroni Monica, Percesepe Antonio, Sorrentini Italo, Tibiletti Mariagrazia, Maestro Roberta, Quaia Michele, Viel Alessand |
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 |
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents. Frontiers in oncology 2022 11 12 870863. Olkinuora Alisa Petriina, Mayordomo Andrea Constanza, Kauppinen Anni Katariina, Cerliani María Belén, Coraglio Mariana, Collia Ávila Karina, Gutiérrez Alejandro, Alvarez Karin, Cassana Alessandra, Lopéz-Köstner Francisco, Jauk Federico, García-Rivello Hernán, Ristimäki Ari, Koskenvuo Laura, Lepistö Anna, Nieminen Taina Tuulikki, Vaccaro Carlos Alberto, Pavicic Walter Hernán, Peltomäki Päi |
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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- Page last updated:Apr 22, 2024
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