Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 95 Records) |
| Query Trace: Disease and MUTYH[original query] |
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| Germline Alterations in Patients With IBD-associated Colorectal Cancer. Inflammatory bowel diseases 2021 8 28 (3): 447-454. Biscaglia Giuseppe, Latiano Anna, Castellana Stefano, Fontana Rosanna, Gentile Annamaria, Latiano Tiziana, Corritore Giuseppe, Panza Anna, Nardella Marianna, Martino Giuseppina, Bossa Fabrizio, Perri Francesco, Mazza Tommaso, Andriulli Angelo, Palmieri Oraz |
| Male and female breast cancer: the two faces of the same genetic susceptibility coin. Breast cancer research and treatment 2021 5 188 (1): 295-305. Silva Susana Nunes, Gomes Bruno Costa, André Saudade, Félix Ana, Rodrigues António Sebastião, Rueff Jo |
| 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 |
| Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies. Science translational medicine 2021 1 13 (578): . Tlemsani Camille, Takahashi Nobuyuki, Pongor Lorinc, Rajapakse Vinodh N, Tyagi Manoj, Wen Xinyu, Fasaye Grace-Ann, Schmidt Keith T, Desai Parth, Kim Chul, Rajan Arun, Swift Shannon, Sciuto Linda, Vilimas Rasa, Webb Santhana, Nichols Samantha, Figg William Douglas, Pommier Yves, Calzone Kathleen, Steinberg Seth M, Wei Jun S, Guha Udayan, Turner Clesson E, Khan Javed, Thomas Ani |
| Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients. Journal of personalized medicine 2022 Aug 12 (8): . Hutchcraft Megan Leigh, Zhang Shulin, Lin Nan, Gottschalk Ginny Lee, Keck James W, Belcher Elizabeth A, Sears Catherine, Wang Chi, Liu Kun, Dietz Lauren E, Pickarski Justine C, Wei Sainan, Cardarelli Roberto, DiPaola Robert S, Kolesar Jill |
| 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 |
| Further refining 2020 ESGO/ESTRO/ESP molecular risk classes in patients with early-stage endometrial cancer: A propensity score-matched analysis. Cancer 2022 May . Nero Camilla, Pasciuto Tina, Cappuccio Serena, Corrado Giacomo, Pelligra Silvia, Zannoni Gian Franco, Santoro Angela, Piermattei Alessia, Minucci Angelo, Lorusso Domenica, Fanfani Francesco, Scambia Giovan |
| MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 4 28 (20): 4456-4465. Manning-Geist Beryl, Gordhandas Sushmita, Liu Ying L, Zhou Qin, Iasonos Alexia, Da Cruz Paula Arnaud, Mandelker Diana, Roche Kara Long, Zivanovic Oliver, Maio Anna, Kemel Yelena, Chi Dennis S, O'Cearbhaill Roisin E, Aghajanian Carol, Weigelt Britta, Chui M Herman, Grisham Rachel |
| Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India. BMC genomic data 2022 3 23 (1): 23. Vanlallawma Andrew, Lallawmzuali Doris, Pautu Jeremy L, Scaria Vinod, Sivasubbu Sridhar, Kumar Nachimuthu Senth |
| Exome sequencing identifies novel genes and variants in patients with Hirschsprung disease. Journal of pediatric surgery 2022 12 . Gunadi , Kalim Alvin Santoso, Iskandar Kristy, Marcellus , Puspitarani Dyah Ayu, Diposarosa Rizki, Makhmudi Akhmad, Astuti Galuh Dyah N |
| Associations of DNA Base Excision Repair and Antioxidant Enzyme Genetic Risk Scores with Biomarker of Systemic Inflammation. Frontiers in aging 2022 11 3 897907. Mao Ziling, Gray Abigail L H, Gross Myron D, Thyagarajan Bharat, Bostick Roberd |
| The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021. Frontiers in genetics 2022 11 13 1020543. Roht Laura, Tooming Mikk, Rekker Kadri, Roomere Hanno, Toome Kadri, Murumets Ülle, Šamarina Ustina, Õunap Katrin, Kahre Tii |
| Effects of cyclophosphamide related genetic variants on clinical outcomes of adult hematopoietic cell transplant patients. Cancer chemotherapy and pharmacology 2022 Jan . Takahashi Takuto, Pearson Rachael, Cao Qing, Scheibner Aileen, Sanghavi Kinjal, Weisdorf Daniel, Brunstein Claudio, Rogosheske John, Bachanova Veronika, Warlick Erica D, Wiseman Anthony, Jacobson Pamala |
| 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 |
| First report of medulloblastoma in a patient with MUTYH-associated polyposis. Neuropathology and applied neurobiology 2023 7 e12929. Marie-Charlotte Villy, Mathilde Warcoin, Mathilde Filser, Bruno Buecher, Lisa Golmard, Voreak Suybeng, Mathias Schwartz, Ivan Bieche, Sophie Vacher, Valérie Laurence, Franck Bourdeaut, Michèle Bernier, Tom Gutman, Dominique Stoppa-Lyonnet, Julien Masliah-Planchon, Chrystelle Col |
| Antioxidant enzyme and DNA base repair genetic risk scores' associations with systemic oxidative stress biomarker in pooled cross-sectional studies. Frontiers in aging 2023 5 4 1000166. Ziling Mao, Abigail L H Gray, Bharat Thyagarajan, Roberd M Bosti |
| 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 |
| Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans. Molecular genetics & genomic medicine 2023 12 e2332. Oscar Alonso-Luna, Gabriela E Mercado-Celis, Jorge Melendez-Zajgla, Rodrigo Barquera, Marta Zapata-Tarres, Luis Enrique Juárez-Villegas, Elvia Cristina Mendoza-Caamal, Elianeth Rey-Helo, Socorro Aida Borges-Yañ |
| Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants. Breast cancer research and treatment 2023 12 . Christopher J Schwartz, Nikka Khorsandi, Amie Blanco, Rita A Mukhtar, Yunn-Yi Chen, Gregor Krin |
| Monoallelic deleterious MUTYH mutations generate colorectal cancer: A case report. Clinical case reports 2023 11 11 (12): e8229. Bei Zhao, Wenqi Sun, Yunrong Wang, Xinrong Wu, Yifan Li, Weiwei Wang, Muhan Ni, Peng Yan, Xiaotan Dou, Lei Wang, Min Ch |
| [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 |
| Whole exome germline sequencing in early-onset prostate cancer patients: Genomic findings and clinical outcomes. The Prostate 2023 10 . Nava Siegelmann-Danieli, Victoria Neiman, Avital Bareket-Samish, Racheli Berger, Asaf Peretz, Hillel Alapi, Erez Tsur, Tal Patalon, Daniella Beller, Galit Rimler, Gabriel Chodick, Mordechai Shoh |
| Actionable genomic landscapes from a real-world cohort of urothelial carcinoma patients. Urologic oncology 2023 1 41 (3): 148.e17-148.e24. Gerald Thomas, Margulis Vitaly, Meng Xiaosong, Bagrodia Aditya, Cole Suzanne, Qin Qian, Call S Greg, Mauer Elizabeth, Lotan Yair, Woldu Solomon |
| Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
| Comprehensive exploration on the role of base excision repair genes in modulating immune infiltration in low-grade glioma. Pathology, research and practice 2024 8 262 155559. Parthipan P, Subhadra Kumari, Santosh Kumar, Srinivasan Muthuswa |
| Germline Sequencing of DNA Damage Repair Genes in Two Hereditary Prostate Cancer Cohorts Reveals New Disease Risk-Associated Gene Variants. Cancers 2024 7 16 (13): . Georgea R Foley, James R Marthick, Sionne E Lucas, Kelsie Raspin, Annette Banks, Janet L Stanford, Elaine A Ostrander, Liesel M FitzGerald, Joanne L Dickins |
| Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer. Genes 2024 5 15 (5): . Carla Lintas, Benedetta Canalis, Alessia Azzarà, Giovanna Sabarese, Giuseppe Perrone, Fiorella Gurrie |
| Chemotherapy-free treatment targeting fusions and driver mutations in KRAS wild-type pancreatic ductal adenocarcinoma, a case series. Therapeutic advances in medical oncology 2024 5 16 17588359241253113. Maahum Mehdi, Aniko Szabo, Aditya Shreenivas, James P Thomas, Susan Tsai, Kathleen K Christians, Douglas B Evans, Callisia N Clarke, William A Hall, Beth Erickson, Gulrayz Ahmed, Bicky Thapa, Thomas McFall, Ben George, Razelle Kurzrock, Mandana Kamg |
| Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans. Genetics in medicine open 2024 12 2 101895. Michael R Sargen, Jung Kim, Jeremy S Haley, Hayley P Barker, Piyushkumar A Mundra, Mandy L Ballinger, David M Thomas, David J Carey, Alisa M Goldstein, Douglas R Stewa |
- Page last reviewed:Feb 1, 2024
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