Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 302 Records) |
Query Trace: Syndrome 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 |
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 |
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer. Hereditary cancer in clinical practice 2023 7 21 (1): 13. Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolo |
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 |
Mutation-specific Mismatch Repair-deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development. The American journal of surgical pathology 2023 5 . Shaymaa Hegazy, Randall E Brand, Beth Dudley, Eve Karloski, Jamie L Lesnock, Esther Elishaev, Reetesh K P |
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants. JAMA oncology 2023 5 . Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, Masayasu Horibe, Shruti Chandra, Shounak Majumder, Gloria M Petersen, Kari G Ra |
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 |
MLH1 Loss in Primary Prostate Cancer. JCO precision oncology 2023 5 7 e2200611. Sanaz Nourmohammadi Abadchi, Laura A Sena, Emmanuel S Antonarakis, Colin C Pritchard, James R Eshleman, Eric Q Konnick, Stephen J Salipante, Eugene Shenderov, Tamara L Lot |
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 |
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome. Journal of translational medicine 2023 4 21 (1): 282. Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T Harris, Alex Henderson, Megan Higgins, John L Hopper, Ryan A Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O'Connell, Nicholas Pachter, Bernard J Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K Win, Michael D Walsh, Finlay A Macrae, Mark A Jenkins, Christophe Rosty, Ingrid M Winship, Daniel D Buchanan, |
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 |
Endometrial Carcinomas With Subclonal Loss of Mismatch Repair Proteins: A Clinicopathologic and Genomic Study. The American journal of surgical pathology 2023 3 . Mendoza Rachelle P, Wang Peng, Schulte Jefree J, Tjota Melissa Y, Jani Ina, Martinez Anna C, Haridas Rishikesh, Wanjari Pankhuri, Steinhardt George, Brown Noah, Betz Bryan L, Chapel David B, Kertowidjojo Elizabeth, Yamada S D, Bennett Jennifer |
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 |
Gender-specific counselling of patients with upper tract urothelial carcinoma and Lynch syndrome. World journal of urology 2023 3 . Cerrato Clara, Pandolfo Savio Domenico, Autorino Riccardo, Panunzio Andrea, Tafuri Alessandro, Porcaro Antonio Benito, Veccia Alessandro, De Marco Vincenzo, Cerruto Maria Angela, Antonelli Alessandro, Derweesh Ithaar H, Maresma Maria Carmen M |
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome. medRxiv : the preprint server for health sciences 2023 3 . Walker Romy, Mahmood Khalid, Joo Jihoon E, Clendenning Mark, Georgeson Peter, Como Julia, Joseland Sharelle, Preston Susan G, Antill Yoland, Austin Rachel, Boussioutas Alex, Bowman Michelle, Burke Jo, Campbell Ainsley, Daneshvar Simin, Edwards Emma, Gleeson Margaret, Goodwin Annabel, Harris Marion T, Henderson Alex, Higgins Megan, Hopper John L, Hutchinson Ryan A, Ip Emilia, Isbister Joanne, Kasem Kais, Marfan Helen, Milnes Di, Ng Annabelle, Nichols Cassandra, Oâ Connell Shona, Pachter Nicholas, Pope Bernard J, Poplawski Nicola, Ragunathan Abiramy, Smyth Courtney, Spigelman Allan, Storey Kirsty, Susman Rachel, Taylor Jessica A, Warwick Linda, Wilding Mathilda, Williams Rachel, Win Aung K, Walsh Michael D, Macrae Finlay A, Jenkins Mark A, Rosty Christophe, Winship Ingrid M, Buchanan Daniel D, |
Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico. Genes 2023 2 14 (2): . Pérez-Ibave Diana Cristina, Garza-Rodríguez María Lourdes, Noriega-Iriondo María Fernanda, Flores-Moreno Sonia María, González-Geroniz Manuel Ismael, Espinoza-Velazco Absalon, Castruita-Ávila Ana Lilia, Alcorta-Núñez Fernando, Zayas-Villanueva Omar Alejandro, González-Guerrero Juan Francisco, Alcorta-Garza Adelina, Vidal-Gutiérrez Oscar, Burciaga-Flores Carlos Horac |
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort. BJUI compass 2023 2 4 (2): 156-163. Mian Abrar, Wei Jun, Shi Zhuqing, Rifkin Andrew S, Zheng S Lilly, Glaser Alexander P, Kearns James T, Helfand Brian T, Xu Jianfe |
Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors. Laboratory investigation; a journal of technical methods and pathology 2023 2 102 (2): 160-171. Kim Hyunhee, Lim Ka Young, Park Jin Woo, Kang Jeongwan, Won Jae Kyung, Lee Kwanghoon, Shim Yumi, Park Chul-Kee, Kim Seung-Ki, Choi Seung-Hong, Kim Tae Min, Yun Hongseok, Park Sung-H |
[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 |
Characterization of a germline variant MSH6 c.4001G >?C in a Lynch syndrome family. Molecular genetics & genomic medicine 2023 1 11 (2): e2104. Yang Ciyu, Misyura Maksym, Kane Sarah, Rai Vikas, Latham Alicia, Zhang Liyi |
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 |
Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice. JCO precision oncology 2024 1 8 e2300332. Eirini Papadopoulou, George Rigas, Elena Fountzilas, Anastasios Boutis, Stylianos Giassas, Nikolaos Mitsimponas, Danai Daliani, Dimitrios C Ziogas, Michalis Liontos, Vasileios Ramfidis, Charalampos Christophilakis, Dimitris Matthaios, Theofanis Floros, Chrysiida Florou-Chatzigiannidou, Konstantinos Agiannitopoulos, Angeliki Meintani, Aikaterini Tsantikidi, Anastasia Katseli, Kevisa Potska, Georgios Tsaousis, Vasiliki Metaxa-Mariatou, George Nasioul |
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 |
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- Page last updated:May 06, 2024
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