Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 204 Records) |
Query Trace: Colorectal Neoplasms and MSH6[original query] |
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Tumour mutational burden, microsatellite instability, and actionable alterations in metastatic colorectal cancer: Next-generation sequencing results of TRIBE2 study. European journal of cancer (Oxford, England : 1990) 2021 Aug 155 73-84. Antoniotti Carlotta, Korn W Michael, Marmorino Federica, Rossini Daniele, Lonardi Sara, Masi Gianluca, Randon Giovanni, Conca Veronica, Boccaccino Alessandra, Tomasello Gianluca, Passardi Alessandro, Swensen Jeff, Ugolini Clara, Oberley Matthew, Tamburini Emiliano, Casagrande Mariaelena, Domenyuk Valeriy, Fontanini Gabriella, Giordano Mirella, Abraham Jim, Spetzler David, Falcone Alfredo, Lenz Heinz-Josef, Cremolini Chia |
A Rare Case of Serrated Polyposis Syndrome with the MSH6 and SMARCA4 variants. European journal of case reports in internal medicine 2021 8 8 (7): 002750. Nepal Mahesh, Lokineni Sravani, Naing Le Yu, Bapaye Jay, Olson Er |
Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors-A Cohort Study. Frontiers in endocrinology 2021 7 12 653401. Aswath Kshama, Welch James, Gubbi Sriram, Veeraraghavan Padmasree, Avadhanula Shirisha, Gara Sudheer Kumar, Dikoglu Esra, Merino Maria, Raffeld Mark, Xi Liqiang, Kebebew Electron, Klubo-Gwiezdzinska Joan |
Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer. American journal of cancer research 2021 12 11 (11): 5571-5580. Liao Haiyan, Cai Songhua, Bai Yuezong, Zhang Bei, Sheng Yuling, Tong Shuang, Cai Jinping, Zhao Feilong, Zhao Xiaochen, Chen Shiqing, Zhang Cheng, Gao Ji |
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation. Diseases of the colon and rectum 2021 12 65 (6): 793-803. Park Ji Soo, Park Jung Won, Shin Saeam, Lee Seung-Tae, Shin Sang Joon, Min Byung Soh, Park Soo Jung, Park Jae Jun, Cheon Jae Hee, Kim Won Ho, Kim Tae |
Real-world outcome of universal screening for Lynch syndrome in Japanese patients with colorectal cancer highlights the importance of targeting patients with young-onset disease. Molecular and clinical oncology 2021 Dec 15 (6): 247. Yamada Atsushi, Matsuoka Yui, Minamiguchi Sachiko, Yamamoto Yoshihiro, Kondo Tomohiro, Sunami Tomohiko, Horimatsu Takahiro, Kawada Kenji, Seno Hiroshi, Torishima Masako, Murakami Hiromi, Yamada Takahiro, Kosugi Shinji, Sugano Kokichi, Muto Mana |
[Difference analysis of somatic mutations between deficient mismatch repair and proficient mismatch repair gene related with colorectal cancer]. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2021 10 43 (10): 1088-1093. Tang X J, Yang M Y, Zhu L Z, Xu D, Yuan |
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 |
A Truncated NRIP1 Mutant Amplifies Microsatellite Instability of Colorectal Cancer by Regulating MSH2/MSH6 Expression, and Is a Prognostic Marker of Stage III Tumors. Cancers 2021 Sep 13 (17): . Palassin Pascale, Lapierre Marion, Pyrdziak Samuel, Wagner Antoine, Stehle Régine, Corsini Carole, Duffour Jacqueline, Bonnet Sandrine, Boulahtouf Abdelhay, Rodriguez Carmen, Ho-Pun-Cheung Alexandre, Lopez-Crapez Evelyne, Boissière-Michot Florence, Bibeau Frédéric, Thezenas Simon, Elarouci Nabila, Selves Janick, Hoffmann Jean-Sébastien, Roepman Paul, Mazard Thibault, Buhard Olivier, Duval Alex, Jalaguier Stéphan, Cavaillès Vincent, Castet-Nicolas Audr |
Looking beyond the cytogenetics in haematological malignancies: decoding the role of tandem repeats in DNA repair genes. Molecular biology reports 2022 9 49 (11): 10293-10305. Bhattacharya Priyanjali, Patel Trupti |
Risk of first onset of colorectal cancer associated with alcohol consumption in Lynch syndrome: a multicenter cohort study. International journal of clinical oncology 2022 3 27 (6): 1051-1059. Fujiyoshi Kenji, Sudo Tomoya, Fujita Fumihiko, Chino Akiko, Akagi Kiwamu, Takao Akinari, Yamada Masayoshi, Tanakaya Kohji, Ishida Hideyuki, Komori Koji, Ishihara Soichiro, Miguchi Masashi, Hirata Keiji, Miyakura Yasuyuki, Ishikawa Toshiaki, Yamaguchi Tatsuro, Tomita Naohiro, Ajioka Yoichi, Sugihara Kenic |
Phenotype-Genotype Correlation in Colorectal Cancer: A Real-Life Study. GE Portuguese journal of gastroenterology 2022 2 29 (1): 13-21. Frias-Gomes Catarina, Sousa Ana Carla, Rolim Inês, Henriques Ana Raquel, Branco Francisco, Janeiro André, Malveiro Sara, Dário Ana Rita, Oliveira Maria Helena, Borralho Paula, Teixeira José Alberto, Faria Ana, Maio Rui, Fonseca Isabel, Cravo Maríl |
Prevalence and Spectrum of Predisposition Genes With Germline Mutations Among Chinese Patients With Bowel Cancer. Frontiers in genetics 2022 2 12 755629. Xie Zhengyong, Ke Yongli, Chen Junyong, Li Zehang, Wang Changzheng, Chen Yuhong, Ding Hongliang, Cheng Liya |
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 |
Impact of Institutional Universal Microsatellite-Instability (MSI) Reflex Testing on Molecular Profiling Differences Between Younger and Older Patients with Colorectal Cancer. Clinical colorectal cancer 2022 11 . Altshuler Ellery, Franke Aaron J, Skelton William Paul, Feely Michael, Wang Yu, Lee Ji-Hyun, Read Thomas, Terracina Krista, Lou Xiang-Yang, Dai Yunfeng, George Thomas |
Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer. Journal of hepatology 2022 10 78 (2): 333-342. Okawa Yuki, Iwasaki Yusuke, Johnson Todd A, Ebata Nobutaka, Inai Chihiro, Endo Mikiko, Maejima Kazuhiro, Sasagawa Shota, Fujita Masashi, Matsuda Koichi, Murakami Yoshinori, Nakamura Toru, Hirano Satoshi, Momozawa Yukihide, Nakagawa Hidewa |
Molecular characteristics of young-onset colorectal cancer in Vietnamese patients. Asia-Pacific journal of clinical oncology 2022 Jan . Do Minh Duc, Nguyen Thinh Huu, Le Khuong Thai, Le Linh Hoang Gia, Nguyen Bac Hoang, Le Kien Trung, Doan Thao Phuong Thi, Ho Chuong Quoc, Nguyen Hoai-Nghia, Tran Tuan Diep, Vu Hoang A |
Metachronous colorectal cancer have a similar microsatellite instability frequency but a lower infiltration of lymphomononuclear cells than primary lesions. Surgery 2022 1 171 (6): 1605-1611. Angriman Imerio, Fassan Matteo, Nacci Camilla, De Simoni Ottavia, Kotsafti Andromachi, Businello Gianluca, Ruffolo Cesare, Scarpa Melania, Dei Tos Angelo Paolo, Agostini Marco, Pucciarelli Salvatore, Bardini Romeo, Scarpa Mar |
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 |
A unique case of rectal cancer with coexistence of multiple pathways of carcinogenesis. World journal of surgical oncology 2023 9 21 (1): 275. Nisha Rateria, Ritu Ojha, Mridula Shukla, Manoj Pand |
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 |
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 |
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 |
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 |
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 |
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- Page last updated:Apr 29, 2024
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