Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 366 Records) |
| Query Trace: Colorectal Neoplasms and MLH1[original query] |
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| 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 |
| [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 |
| The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory. Cancer genomics & proteomics 2024 8 21 (5): 448-463. Nikolaos Tsoulos, Konstantinos Agiannitopoulos, Kevisa Potska, Anastasia Katseli, Christina Ntogka, Georgia Pepe, Dimitra Bouzarelou, Athanasios Papathanasiou, Dimitrios Grigoriadis, Georgios N Tsaousis, Helen Gogas, Theodore Troupis, Konstantinos Papazisis, Ioannis Natsiopoulos, Vassileios Venizelos, Kyriakos Amarantidis, Stylianos Giassas, Christos Papadimitriou, Elena Fountzilas, Maroulio Stathoulopoulou, Anna Koumarianou, Grigorios Xepapadakis, Alexandru Blidaru, Daniela Zob, Oana Voinea, Mustafa Özdo?an, Mahmut Çerkez Ergören, Alinta Hegmane, Eirini Papadopoulou, George Nasioulas, Christos Markopoul |
| Lynch Syndrome and Thyroid Nodules: A Single Center Experience. Genes 2024 7 15 (7): . Irene Spinelli, Simona Moffa, Francesca Fianchi, Teresa Mezza, Francesca Cinti, Gianfranco Di Giuseppe, Clelia Marmo, Gianluca Ianiro, Francesca Romana Ponziani, Annalisa Tortora, Maria Elena Riccioni, Andrea Giaccari, Antonio Gasbarri |
| Performance evaluation of predictive models for detecting MMR gene mutations associated with Lynch syndrome in cancer patients in a Chinese cohort in Taiwan. International journal of cancer 2024 7 . Fei-Hung Hung, Hung-Pin Peng, Chen-Fang Hung, Ling-Ling Hsieh, An-Suei Yang, Yong Alison Wa |
| [Clinicopathological features and prognosis of sporadic mismatch repair deficient colorectal cancer]. Zhonghua bing li xue za zhi = Chinese journal of pathology 2024 7 53 (7): 702-708. H Wang, R P Hong, J C Chen, J Wang, Z J Zhang, X Y Ren, H W Wu, Z Y Lia |
| High Probability of Lynch Syndrome Among Colorectal Cancer Patients Is Associated With Higher Occurrence of KRAS and PIK3CA Mutations. World journal of oncology 2024 7 15 (4): 612-624. Didik Setyo Heriyanto, Naomi Yoshuantari, Gilang Akbariani, Vincent Lau, Hanifa Hanini, Zulfa Hidayati, Muhammad Zulfikar Arief, Andrew Nobiantoro Gunawan, Asep Muhamad Ridwanuloh, Wien Kusharyoto, Adeodatus Yuda Handaya, Mohammad Ilyas, Johan Kurnianda, Susanna Hilda Hutajulu, Susanti Susan |
| Human Leukocyte Antigen-Allelic Variations May Influence the Age at Cancer Diagnosis in Lynch Syndrome. Journal of personalized medicine 2024 6 14 (6): . Lutricia Ndou, Ramadhani Chambuso, Ziyaad Valley-Omar, George Rebello, Ursula Algar, Paul Goldberg, Adam Boutall, Raj Rames |
| Predictors for dMMR colorectal cancer in patients with serrated lesions and polyps - A register-based cohort study. Cancer epidemiology 2024 6 91 102601. Mille Kyhn Andrea, Rikke Karlin Jepsen, Mads Falk Klein, Ismail Gögenur, Tine Plato Kuhlma |
| Colorectal cancer and advanced adenoma characteristics according to causative mismatch repair gene variant in Japanese colorectal surveillance for Lynch syndrome. Journal of gastroenterology 2024 6 . Akiko Chino, Kohji Tanakaya, Takeshi Nakajima, Kiwamu Akagi, Akinari Takao, Masayoshi Yamada, Hideyuki Ishida, Koji Komori, Kazuhito Sasaki, Masashi Miguchi, Keiji Hirata, Tomoya Sudo, Yasuyuki Miyakura, Toshiaki Ishikawa, Tatsuro Yamaguchi, Naohiro Tomita, Yoichi Ajio |
| A registry-based study on universal screening for defective mismatch repair in colorectal cancer in Denmark highlights disparities in screening uptake and counselling referrals. Translational oncology 2024 6 46 102013. Jon Ambæk Durhuus, Michael Galanakis, Thomas Maltesen, Christina Therkildsen, Susanne Rosthøj, Louise Laurberg Klarskov, Charlotte Kvist Lautrup, Ove Andersen, Mef Christina Nilbe |
| 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 |
- Page last reviewed:Feb 1, 2024
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