Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 143 Records) |
Query Trace: Colorectal Neoplasms and PMS2[original query] |
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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 |
MC1R Is a Prognostic Marker and Its Expression Is Correlated with MSI in Colorectal Cancer. Current issues in molecular biology 2021 10 43 (3): 1529-1547. Peng Lixiong, Chang Jiang, Liu Xilin, Lu Shiying, Ren Honglin, Zhou Xiaoshi, Liu Zengshan, Hu P |
[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 |
Routine Immunohistochemical Analysis of Mismatch Repair Proteins in Colorectal Cancer-A Prospective Analysis. Cancers 2022 8 14 (15): . Lemos Garcia Joana, Rosa Isadora, Saraiva Sofia, Marques Inês, Fonseca Ricardo, Lage Pedro, Francisco Inês, Silva Patrícia, Filipe Bruno, Albuquerque Cristina, Claro Isab |
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 |
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 |
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 |
Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing? International journal of molecular sciences 2022 10 23 (19): . Infante Mar, Arranz-Ledo Mónica, Lastra Enrique, Abella Luis Enrique, Ferreira Raquel, Orozco Marta, Hernández Lara, Martínez Noemí, Durán Merced |
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 |
The Genomic Landscape of Colorectal Cancer in the Saudi Arabian Population Using a Comprehensive Genomic Panel. Diagnostics (Basel, Switzerland) 2023 9 13 (18): . Ebtehal Alsolme, Saleh Alqahtani, Musa Fageeh, Duna Barakeh, Nitesh K Sharma, Serghei Mangul, Heather A Robinson, Amany Fathaddin, Charlotte A E Hauser, Malak Abedalthaga |
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 |
Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients. Genes 2023 8 14 (8): . Luiza Côrtes, Tatiane Ramos Basso, Rolando André Rios Villacis, Jeferson Dos Santos Souza, Mads Malik Aagaard Jørgensen, Maria Isabel Achatz, Silvia Regina Rogat |
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 |
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 |
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 |
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 |
[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 |
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 |
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. Molecular genetics & genomic medicine 2024 1 12 (1): e2360. Melanie Gass, Britta Seebauer, Aline Thommen, Alexandra Fischler, Karl Heinima |
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- Page last updated:May 06, 2024
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