Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 276 Records) |
| Query Trace: Colorectal Neoplasms and MSH2[original query] |
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| 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 |
| Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population. Genes 2022 11 13 (11): . Sidenna Mariem, Khodjet-El-Khil Houssein, Al Mulla Hajar, Al-Shafai Mashael, Habish Hind Hassan, Al-Sulaiman Reem, Al-Bader Salha Bujasso |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Colonoscopy and Upper Endoscopy Surveillance in Lynch Syndrome: A Longitudinal Study From a Large Tertiary Healthcare System. Gastro hep advances 2024 9 3 (7): 995-1000. Elena Gibson, Haojia Li, Judith Staub, Deb Neklason, Megan Keener, Priyanka Kan |
| 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 |
| Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer. Molecular systems biology 2024 7 . Aidan Flynn, Sebastian M Waszak, Joachim Weischenfel |
| 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 mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis. International journal of colorectal disease 2024 12 39 (1): 201. Francisco Cezar Aquino de Moraes, Nayara Rozalem Moretti, Vitor Kendi Tsuchiya Sano, Cristiane Wen Tsing Ngan, Rommel Mario Rodríguez Burba |
| A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review. Frontiers in genetics 2024 10 15 1440179. Lan Zhong, Wenxiang Wang, Yuanqiong Duan, Liang Song, Zhanghuan Li, Kaixuan Yang, Qintong Li, Rutie Y |
| Anticipation in families with MLH1-associated Lynch syndrome. Cancer 2024 10 . Arti S Pandey, Christine Drogan, Dezheng Huo, Kristen Postula, Shreshtha M Garg, Sonia S Kupf |
| 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 |
| Mutation Analysis of TMB-High Colorectal Cancer: Insights Into Molecular Pathways and Clinical Implications. Cancer science 2025 1 . Yuko Chikaishi, Hiroshi Matsuoka, Eiji Sugihara, Mayu Takeda, Makoto Sumitomo, Seiji Yamada, Gaku Inaguma, Yusuke Omura, Yeongcheol Cheong, Yosuke Kobayashi, Masaya Nakauchi, Junichiro Hiro, Koji Masumori, Koki Otsuka, Hiroshi Nishihara, Koichi Suda, Hideyuki Saya, Tetsuya Takimo |
- Page last reviewed:Feb 1, 2024
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