Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 63 Records) |
Query Trace: Syndrome and MUTYH[original query] |
---|
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 8 32 (Supplementum2): 6-13. Foretová Lenka, Navrátilová Marie, Svoboda Marek, Vaší?ková Petra, S?ahlová Eva Hrabincová, Házová Jana, Kleiblová Petra, Kleibl Zden?k, Machá?ková Eva, Palácová Markéta, Petráková Katarí |
Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome. Clinical colorectal cancer 2019 7 18 (4): e324-e334. Ow Samuel G W, Tan Kar Tong, Yang Henry, Yap Hui-Ling, Sapari Nur Sabrina Binte, Ong Pei Yi, Soong Richie, Lee Soo-Ch |
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 |
Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China. Journal of gastroenterology and hepatology 2019 5 34 (9): 1497-1503. Li Na, Kang Qian, Yang Lang, Zhao Xiao-Jun, Xue Li-Jun, Wang Xin, Li Ai-Qin, Li Chen-Guang, Sheng Jian-Q |
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis. Cancer genetics 2019 11 240 45-53. Kdissa Ameni, Brusgaard Klaus, Ksiaa Mahdi, Golli Lamia, Hallara Olfa, Ousager Lilian Bomme, Manoubi Wiem, Seghaier Rihab Ben, Adala Labiba, Halleb Yosra, Saad Ali, Hmila Fahmi, Gribaa Mo |
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer. Genes, chromosomes & cancer 2020 7 59 (12): 697-701. Schubert Stephanie A, Ruano Dina, Tiersma Yvonne, Drost Mark, de Wind Niels, Nielsen Maartje, van Hest Liselotte P, Morreau Hans, de Miranda Noel F C C, van Wezel T |
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. EBioMedicine 2020 3 53 102675. Earl Julie, Galindo-Pumariño Cristina, Encinas Jessica, Barreto Emma, Castillo Maria E, Pachón Vanessa, Ferreiro Reyes, Rodríguez-Garrote Mercedes, González-Martínez Silvia, Ramon Y Cajal Teresa, Diaz Luis Robles, Chirivella-Gonzalez Isabel, Rodriguez Montse, de Castro Eva Martínez, García-Seisdedos David, Muñoz Gloria, Rosa Juan Manuel Rosa, Marquez Mirari, Malats Nuría, Carrato Alfre |
Investigation of Hereditary Cancer Predisposition Genes of Patients with Colorectal Cancer: Single-centre Experience. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2021 Jul 30 (7): 811-816. Duzkale Neslihan, Oz Ozlem, Turkmenoglu Tugba Taskin, Cetinkaya Kadir, Eren Tulay, Yalcin Suay |
Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population. Cancer 2021 6 127 (19): 3599-3604. Bernstein-Molho Rinat, Galmor Lee, Laitman Yael, Segev Shlomo, Friedman Eit |
Are there monogenic hereditary forms of bladder cancer or only genetic susceptibilities? Pharmacogenomics 2021 May . Souaid Tarek, Hindy Joya-Rita, Diab Ernest, Kourie Hampig Rapha |
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 |
Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer. Clinical breast cancer 2021 5 21 (6): e647-e653. Ece Solmaz Asl?, Yeniay Levent, Gökmen Erhan, Zekio?lu Osman, Haydaro?lu Ayfer, Bilgen I??l, Özk?nay Ferda, Onay Hüsey |
The results of multigene panel sequencing in Slovak HBOC families. Neoplasma 2021 Mar . Konecny Michal, Kosova Klaudia, Tilandyova Petra, Wachsmannova Lenka, Baldovic Marian, Krajcovic Juraj, Patlevicova Andrea, Markus Jan, Ciernikova So |
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 |
Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome. Cancers 2022 9 14 (17): . Dos Santos Wellington, de Andrade Edilene Santos, Garcia Felipe Antonio de Oliveira, Campacci Natália, Sábato Cristina da Silva, Melendez Matias Eliseo, Reis Rui Manuel, Galvão Henrique de Campos Reis, Palmero Edenir In |
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients. European journal of human genetics : EJHG 2022 5 30 (7): 818-823. de Oliveira Jarbas Maciel, Zurro Nuria Bengala, Coelho Antonio Victor Campos, Caraciolo Marcel Pinheiro, de Alexandre Rodrigo Bertollo, Cervato Murilo Castro, Minillo Renata Moldenhauer, de Vasconcelos Carvalho Neto George, Grivicich Ivana, Oliveira João Bos |
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 |
Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology 2022 11 9 (1): 95-101. Holowatyj Andreana N, Washington Mary K, Tavtigian Sean V, Eng Cathy, Horton Carol |
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
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 |
Completion of Genetic Testing and Incidence of Pathogenic Germline Mutation among Patients with Early-Onset Colorectal Cancer: A Single Institution Analysis. Cancers 2023 7 15 (14): . Michael H Storandt, Kara R Rogen, Anushka Iyyangar, Rylie R Schnell, Jessica L Mitchell, Joleen M Hubbard, Frank A Sinicrope, Aminah Jatoi, Amit Mahipal, Qian Shi, Zhaohui J |
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling. Mutation research 2023 7 827 111831. Zeynep Özdemir, Ezgi Çevik, Ömür Berna Çakmak Öksüzo?lu, Mutlu Do?an, Öztürk Ate?, Ece Esin, ?rem Bilgetekin, Umut Demirci, Ça?lar Köseo?lu, Alper Topal, Nuri Karadurmu?, Haktan Ba??? Erdem, Taha Bah |
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel. Oncotarget 2023 6 14 580-594. Musa AlHarbi, Nahla Ali Mobark, Wael Abdel Rahman AlJabarat, Hadeel ElBardis, Ebtehal AlSolme, Abdullah Bany Hamdan, Ali H AlFakeeh, Fatimah AlMushawah, Fawz AlHarthi, Abdullah A AlSharm, Ali Abdullah O Balbaid, Naji AlJohani, Alicia Y Zhou, Heather A Robinson, Saleh A Alqahtani, Malak Abedalthaga |
Germline multigene panel testing of patients with endometrial cancer. Oncology letters 2023 5 25 (6): 216. Jan Kral, Sandra Jelinkova, Petra Zemankova, Michal Vocka, Marianna Borecka, Leona Cerna, Marta Cerna, Lukas Dostalek, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Stepan Chvojka, Marta Kalousova, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Petr Nehasil, Jan Novotny, Barbora Otahalova, Alena Puchmajerova, Marketa Safarikova, Jiri Slama, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Michal Zikan, Tomas Zima, Jana Soukupova, Petra Kleiblova, Zdenek Kleibl, Marketa Janato |
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 2023 4 16 53-62. Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, Jose Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambra |
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort. BJUI compass 2023 2 4 (2): 156-163. Mian Abrar, Wei Jun, Shi Zhuqing, Rifkin Andrew S, Zheng S Lilly, Glaser Alexander P, Kearns James T, Helfand Brian T, Xu Jianfe |
Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps' number in clinical management and colorectal cancer risk. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2023 12 . Silvia Negro, Quoc Riccardo Bao, Marco Scarpa, Federico Scognamiglio, Salvatore Pucciarelli, Andrea Remo, Marco Agostini, Edoardo D'Angelo, Isabella Mammi, Francesca Schiavi, Silvia Rossi, Fabiana Zingone, Francesco Ferrara, Alberto Fantin, Chiara Cristofori, Ennio Guido, Erik Rosa Rizzotto, Rossana Intini, Francesca Bergamo, Matteo Fassan, Leonardo Salviati, Emanuele D L Ur |
[Results of Endoscopic Screening and Therapy of the Duodenum in MUTYH-associated Polyposis]. Zentralblatt fur Chirurgie 2023 11 148 (6): 502-507. Sonja Haas, Christian P Strassburg, Jacob Nattermann, Robert Huenebu |
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 |
Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing. Pathology, research and practice 2024 1 254 155075. Seref Bugra Tuncer, Betul Celik, Seda Kilic Erciyas, Ozge Sukruoglu Erdogan, Busra Kurt Gültaslar, Demet Akdeniz Odemis, Mukaddes Avsar, Fatma Sen, P?nar Mualla Saip, Hulya Yazi |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: