Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 357 Records) |
Query Trace: Colorectal Neoplasms and MLH1[original query] |
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Genetic and epigenetic characteristics of patients with colorectal cancer from Uruguay. Pathology, research and practice 2022 12 241 154264. Vital Marcelo, Carusso Florencia, Vergara Carolina, Neffa Florencia, Della Valle Adriana, Esperón Patric |
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report. Frontiers in oncology 2023 9 13 1195814. Firas Akrout, Ahlem Achour, Carli M J Tops, Richard Gallon, Rym Meddeb, Sameh Achoura, Mariem Ben Rekaya, Emna Hamdeni, Soumaya Rammeh, Ridha Chkili, Nada Mansouri, Neila Belguith, Ridha Mr |
Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study. Medicine 2023 9 102 (38): e35022. Masanao Kaneko, Mitsuko Nakashima, Kiichi Sugiura, Natsuki Ishida, Satoshi Tamura, Shinya Tani, Mihoko Yamade, Yasushi Hamaya, Satoshi Osawa, Kyota Tatsuta, Kiyotaka Kurachi, Satoshi Baba, Yuji Iwashita, Tomio Arai, Haruhiko Sugimura, Masato Maekawa, Ken Sugimoto, Moriya Iwaizu |
MLH1 rs1800734 Pathogenic Variant among Patients with Colorectal Cancer in the Lower Northeastern Region of Thailand. Asian Pacific journal of cancer prevention : APJCP 2023 8 24 (8): 2911-2916. Malinee Pongsavee, Kamol Wisuwan, Kritpipat Pongsav |
Identification and genetic counseling for a novel variant of MLH1 associated with lynch syndrome in colorectal cancer: a case report. Gastroenterology report 2023 8 11 goad049. Xiaohuan Lu, Hongyan Zhang, Luming Xu, Yang Cao, Yuan Li, Wei Li, Gang Li, Feng Xue, Zheng Wa |
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam. Familial cancer 2023 7 . Huu-Thinh Nguyen, Y-Thanh Lu, Duc-Huy Tran, Ba-Linh Tieu, Kien-Trung Le, Truong-Vinh Ngoc Pham, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Hoa Giang, Hung-Sang Ta |
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 |
Polyps and colorectal cancer in serrated polyposis syndrome: contribution of the classical adenoma-carcinoma and serrated neoplasia pathways. Clinical and translational gastroenterology 2023 6 . David E F W M van Toledo, Joep E G IJspeert, Hannah Boersma, Alex R Musler, Arne G C Bleijenberg, Evelien Dekker, Carel J M van Noes |
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome. Journal of medical genetics 2023 6 . Nuria Dueñas, Hannah Klinkhammer, Nuria Bonifaci, Isabel Spier, Andreas Mayr, Emadeldin Hassanin, Anna Diez-Villanueva, Victor Moreno, Marta Pineda, Carlo Maj, Gabriel Capellà, Stefan Aretz, Joan Brun |
Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer. The Kaohsiung journal of medical sciences 2023 6 . Nayeralsadat Fatemi, Siang-Jyun Tu, Chin-Chun Chung, Pardis Ketabi Moghadam, Ehsan Nazemalhosseini Mojarad, Amir Sadeghi, Mehdi Totonchi, Hamid Asadzadeh Aghdaei, Jan-Gowth Cha |
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 |
Microsatellite Status Detection of Colorectal Cancer: Evaluation of Inconsistency between PCR and IHC. Journal of Cancer 2023 5 14 (7): 1132-1140. Jielin Chen, Qijia Yan, Jingyue Sun, Qingyi Wang, Yongguang Tao, Desheng Xiao, Bin X |
An Insight into the lynch Syndrome: Retrospective Study of the Pattern of Presentation and Management of Lynch Syndrome in Pakistan. Journal of cancer & allied specialties 2023 5 9 (1): 503. Faraz Faisal Khan, Sarah Khan, Mujeeb Ur Rahman, Maria Qubtia, Amer Rehman Faroo |
Colorectal surveillance outcomes from an institutional longitudinal cohort of lynch syndrome carriers. Frontiers in oncology 2023 5 13 1146825. Gabriel Del Carmen, Laura Reyes-Uribe, Daniel Goyco, Kyera Evans, Charles M Bowen, Jennifer L Kinnison, Valerie O Sepeda, Diane M Weber, Julie Moskowitz, Maureen E Mork, Selvi Thirumurthi, Patrick M Lynch, Miguel A Rodriguez-Bigas, Melissa W Taggart, Y Nancy You, Eduardo Vil |
BRAF V600E/RAS Mutations and Lynch Syndrome in Patients With MSI-H/dMMR Metastatic Colorectal Cancer Treated With Immune Checkpoint Inhibitors. The oncologist 2023 4 . Colle Raphael, Lonardi Sara, Cachanado Marine, Overman Michael J, Elez Elena, Fakih Marwan, Corti Francesca, Jayachandran Priya, Svrcek Magali, Dardenne Antoine, Cervantes Baptiste, Duval Alex, Cohen Romain, Pietrantonio Filippo, André Thier |
Endoscopic surveillance of Lynch syndrome at a highly specialized center in Sweden: An observational study of interval colorectal cancer and individual risk factors. Frontiers in oncology 2023 3 13 1127707. Jamizadeh Nigin, Walton Bernstedt Sophie, Haxhijaj Adrianna, Andreasson Anna, Björk Jan, Forsberg Anna, Backman Ann-Sof |
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence. BMC medical genomics 2023 3 16 (1): 42. Hassanin Emadeldin, Spier Isabel, Bobbili Dheeraj R, Aldisi Rana, Klinkhammer Hannah, David Friederike, Dueñas Nuria, Hüneburg Robert, Perne Claudia, Brunet Joan, Capella Gabriel, Nöthen Markus M, Forstner Andreas J, Mayr Andreas, Krawitz Peter, May Patrick, Aretz Stefan, Maj Car |
Germline Variants in MLH1 and ATM Genes in a Young Patient with MSI-H in a Precancerous Colonic Lesion. International journal of molecular sciences 2023 3 24 (6): . Nolano Antonio, Rossi Giovanni Battista, D'Angelo Valentina, Liccardo Raffaella, Rosa Marina De, Izzo Paola, Duraturo Frances |
Unique Patterns of Heterogeneous Mismatch Repair Protein Expression in Colorectal Cancer Unveil Different Degrees of Tumor Mutational Burden and Distinct Tumor Microenvironment Features. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2023 2 36 (2): 100012. Berrino Enrico, Aquilano Maria Costanza, Valtorta Emanuele, Amodio Vito, Germano Giovanni, Gusmini Marco, Gizzi Katiuscia, Fenocchio Elisabetta, Sapino Anna, Marsoni Silvia, Sartore-Bianchi Andrea, Bardelli Alberto, Siena Salvatore, Bonoldi Emanuela, Marchiò Cateri |
[The structure of pathogenic germline variants in colorectal cancer in Moscow patients]. Arkhiv patologii 2023 11 85 (6): 16-25. A B Semenova, M M Byakhova, M V Makarova, V N Galkin, M V Nemtsova, D K Chernevskiy, A M Danishevich, V G Shatalov, A V Babkina, N G Popova, S M Gadzhie |
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome. Scientific reports 2023 11 13 (1): 18783. Mariann Unhjem Wiik, Mia Negline, Vidar Beisvåg, Matthew Clapham, Elizabeth Holliday, Nuria Dueñas, Joan Brunet, Marta Pineda, Nuria Bonifaci, Stefan Aretz, Hannah Klinkhammer, Isabel Spier, Claudia Perne, Andreas Mayr, Laura Valle, Jan Lubinski, Wenche Sjursen, Rodney J Scott, Bente A Talseth-Palm |
Rates and outcomes of testing for lynch syndrome in a national colorectal cancer screening programme. Cancer epidemiology 2023 1 82 102314. Cudmore Jane, Kumar Lakshman, O'Moráin Neil, Cullen Garrett, Horgan Gareth, Aird John, Sheahan Kieran, Winter Desmond C, Kennelly Rory, Leyden J |
Non-classical phenotypes of mismatch repair deficiency and microsatellite instability in primary and metastatic tumors at different sites in Lynch syndrome. Frontiers in oncology 2023 1 12 1004469. Li Zhiyu, Cheng Bo, Liu Shan, Ding Shanshan, Liu Jinhong, Quan Lanju, Hao Yanjiao, Xu Lin, Zhao Huan, Guo Jing, Sun Suoz |
PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps. Global medical genetics 2023 1 10 (1): 1-5. Poaty Henriette, Bouya Lauria Batamba, Lumaka Aimé, Mongo-Onkouo Arnaud, Gassaye De |
Genomic ancestry and cancer among Latin Americans. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2024 4 . Alejandro Ruíz-Patiño, Leonardo Rojas, Jairo Zuluaga, Oscar Arrieta, Luis Corrales, Claudio Martín, Sandra Franco, Luis Raez, Christian Rolfo, Natalia Sánchez, Andrés Felipe Cardo |
Testing region selection and prognostic analysis of MLH1 promoter methylation in colorectal cancer in China. Gastroenterology report 2024 4 12 goae011. Xiaoli Tan, Yongzhen Fang, Xinjuan Fan, Weihao Deng, Jinglin Huang, Yacheng Cai, Jiaxin Zou, Zhiting Chen, Hanjie Lin, Liang Xu, Guannan Wang, Huanmiao Zhan, Shuhui Huang, Xinhui |
Evaluation of mismatch repair and microsatellite instability status in a Chinese colorectal cancer Cohort. Asian journal of surgery 2024 1 . Peng Zhang, Anqi Wang, Ce Bian, Jing Zhang, Caifeng Jiang, Haiyang Zh |
Clinical-Molecular characteristics and Post-Translational modifications of colorectal cancer in north China: Implications for future targeted therapies. Gene 2024 1 899 148134. Yajing Chi, Hongtu Yuan, Qing Fan, Zhendan Wang, Zuoxing Niu, Jinming Yu, Dandan Yu |
High-throughput sequencing and in-silico analysis confirm pathogenicity of novel MSH3 variants in African American colorectal cancer. Neoplasia (New York, N.Y.) 2024 1 49 100970. Mudasir Rashid, Rumaisa Rashid, Nikhil Gadewal, John M Carethers, Minoru Koi, Hassan Brim, Hassan Ashktor |
Intratumoral presence of the genotoxic gut bacteria pks E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer. British journal of cancer 2024 1 . Jihoon E Joo, Yen Lin Chu, Peter Georgeson, Romy Walker, Khalid Mahmood, Mark Clendenning, Aaron L Meyers, Julia Como, Sharelle Joseland, Susan G Preston, Natalie Diepenhorst, Julie Toner, Danielle J Ingle, Norelle L Sherry, Andrew Metz, Brigid M Lynch, Roger L Milne, Melissa C Southey, John L Hopper, Aung Ko Win, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Mark A Jenkins, Daniel D Buchan |
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- Page last updated:Apr 22, 2024
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