Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 55 Records) |
| Query Trace: Syndrome and MUTYH[original query] |
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| Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition. PloS one 2018 9 13 (9): e0203885. Martin-Morales Lorena, Rofes Paula, Diaz-Rubio Eduardo, Llovet Patricia, Lorca Victor, Bando Inmaculada, Perez-Segura Pedro, de la Hoya Miguel, Garre Pilar, Garcia-Barberan Vanesa, Caldes Trinid |
| Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. Oncotarget 2018 Jul 9 (55): 30649-30660. Chan Gloria H J, Ong Pei Yi, Low Jeffrey J H, Kong Hwai Loong, Ow Samuel G W, Tan David S P, Lim Yi Wan, Lim Siew Eng, Lee Soo-Ch |
| Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population. Human pathology 2018 7 82 20-31. Meiss Alice E, Thomas Martha, Modesitt Susan C, Ring Kari L, Atkins Kristen A, Mills Anne |
| Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify. Clinical journal of gastroenterology 2018 5 11 (6): 457-460. Kidambi Trilokesh D, Goldberg Dena, Nussbaum Robert, Blanco Amie, Umetsu Sarah E, Terdiman Jonathan P, Lee Jeffrey |
| Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. PLoS genetics 2018 4 14 (4): e1007352. Yehia Lamis, Ni Ying, Sesock Kaitlin, Niazi Farshad, Fletcher Benjamin, Chen Hannah Jin Lian, LaFramboise Thomas, Eng Char |
| Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy. Frontiers in oncology 2018 12 8 583. Rizzolo Piera, Silvestri Valentina, Bucalo Agostino, Zelli Veronica, Valentini Virginia, Catucci Irene, Zanna Ines, Masala Giovanna, Bianchi Simonetta, Spinelli Alessandro Mauro, Tommasi Stefania, Tibiletti Maria Grazia, Russo Antonio, Varesco Liliana, Coppa Anna, Calistri Daniele, Cortesi Laura, Viel Alessandra, Bonanni Bernardo, Azzollini Jacopo, Manoukian Siranoush, Montagna Marco, Radice Paolo, Palli Domenico, Peterlongo Paolo, Ottini Lau |
| Identification of Lynch syndrome risk variants in the Romanian population. Journal of cellular and molecular medicine 2018 Dec 22 (12): 6068-6076. Iordache Paul D, Mates Dana, Gunnarsson Bjarni, Eggertsson Hannes P, Sulem Patrick, Benonisdottir Stefania, Csiki Irma Eva, Rascu Stefan, Radavoi Daniel, Ursu Radu, Staicu Catalin, Calota Violeta, Voinoiu Angelica, Jinga Mariana, Rosoga Gabriel, Danau Razvan, Sima Sorin Cristian, Badescu Daniel, Suciu Nicoleta, Radoi Viorica, Mates Ioan Nicolae, Dobra Mihai, Nicolae Camelia, Kristjansdottir Sigrun, Jonasson Jon G, Manolescu Andrei, Arnadottir Gudny, Jensson Brynjar, Jonasdottir Aslaug, Sigurdsson Asgeir, le Roux Louise, Johannsdottir Hrefna, Rafnar Thorunn, Halldorsson Bjarni V, Jinga Viorel, Stefansson Ka |
| 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 |
| Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing. Frontiers in oncology 2019 3 9 123. Wang Yao, Yu Mei, Yang Jia-Xin, Cao Dong-Yan, Zhang Ying, Zhou Hui-Mei, Yuan Zhen, Shen Ke |
| 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, |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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