Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 348 Records) |
Query Trace: Colorectal Neoplasms and MLH1[original query] |
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Somatic hits in mismatch repair genes in colorectal cancer among non-seminoma testicular cancer survivors. British journal of cancer 2022 Sep . Ykema Berbel L M, Breekveldt Emilie C H, Carvalho Beatriz, van Wezel Tom, Meijer Gerrit A, Kerst Martijn, Schaapveld Michael, van Leeuwen Flora E, Snaebjornsson Petur, van Leerdam Monique |
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 |
Molecular characterization of colorectal cancer patients. Biomedica : revista del Instituto Nacional de Salud 2022 05 42 (Sp. 1): 154-171. Afanador Carlos Humberto, Palacio Katherine Andrea, Isaza Luis Fernando, Ahumada Enoc, Ocampo Carlos Mauricio, Muñetón Carlos Mar |
Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer. PloS one 2022 17 (6): e0267090. Marbun Vania Myralda Giamour, Erlina Linda, Lalisang Toar Jean Mauri |
High Expression of Casein Kinase 2 Alpha Is Responsible for Enhanced Phosphorylation of DNA Mismatch Repair Protein MLH1 and Increased Tumor Mutation Rates in Colorectal Cancer. Cancers 2022 3 14 (6): . Ulreich Katharina, Firnau May-Britt, Tagscherer Nina, Beyer Sandra, Ackermann Anne, Plotz Guido, Brieger Ange |
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 |
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 |
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 |
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 |
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 |
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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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