Human Genome Epidemiology Literature Finder
Cancer
Records 1 - 30 (of 507 Records) |
Query Trace: Lynch Syndrome[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 |
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 |
Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene. Genetics in medicine : official journal of the American College of Medical Genetics 2024 8 101230. Robert D Morgan, George J Burghel, Nicola Flaum, Helene Schlecht, Andrew R Clamp, Jurjees Hasan, Claire Mitchell, Zena Salih, Sarah Moon, Martin Hogg, Rosemary Lord, Claire Forde, Fiona Lalloo, Emma R Woodward, Emma J Crosbie, Stephen S Taylor, Gordon C Jayson, D Gareth R Eva |
Transcriptomic Meta-Analysis Identifies Upregulated Clotting and Fibrinolysis Pathways in Colorectal Cancer Tumors Containing Hereditary PMS2 Mismatch Repair Deficiency. microPublication biology 2024 8 2024 . Trenton M Gibson, Mauri D Spendlove, Naomi Rapier-Sharman, Brett E Picke |
Quality of endoscopic surveillance of Lynch syndrome patients in a Swedish cohort. Endoscopy international open 2024 7 12 (7): E854-E860. Sophie Walton Bernstedt, Adrianna Haxhijaj, Nigin Jamizadeh, Jan Björk, Anna Andreasson, Anna M Forsberg, Ann-Sofie Backm |
Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? Frontiers in oncology 2024 7 14 1390221. Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Barate |
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 |
[Clinicopathological features and prognosis of sporadic mismatch repair deficient colorectal cancer]. Zhonghua bing li xue za zhi = Chinese journal of pathology 2024 7 53 (7): 702-708. H Wang, R P Hong, J C Chen, J Wang, Z J Zhang, X Y Ren, H W Wu, Z Y Lia |
Universal screening for Lynch syndrome in endometrial cancer diagnoses in Auckland, New Zealand: The initial experience. The Australian & New Zealand journal of obstetrics & gynaecology 2024 7 . Silipa Lock Sam Naiqiso, Jo Moses, Ai Ling Tan, Lois E |
Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study. Cancers 2024 7 16 (13): . Jiunn-Tyng Yeh, Hung-Pin Peng, Fei-Hung Hung, Chen-Fang Hung, Ling-Ling Hsieh, An-Suei Yang, Yong Alison Wa |
High Probability of Lynch Syndrome Among Colorectal Cancer Patients Is Associated With Higher Occurrence of KRAS and PIK3CA Mutations. World journal of oncology 2024 7 15 (4): 612-624. Didik Setyo Heriyanto, Naomi Yoshuantari, Gilang Akbariani, Vincent Lau, Hanifa Hanini, Zulfa Hidayati, Muhammad Zulfikar Arief, Andrew Nobiantoro Gunawan, Asep Muhamad Ridwanuloh, Wien Kusharyoto, Adeodatus Yuda Handaya, Mohammad Ilyas, Johan Kurnianda, Susanna Hilda Hutajulu, Susanti Susan |
Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk. Heliyon 2024 7 10 (11): e31855. Pamela Rivero-García, Yanin Chavarri-Guerra, José Luis Rodríguez Olivares, Jeffrey N Weitzel, Josef Herzog, Fernando Candanedo-González, Javier Ríos-Valencia, Osvaldo M Mutchinick, Jazmín Arteaga-Vázqu |
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort. Familial cancer 2024 6 . Lauri J Sipilä, Mervi Aavikko, Janne Ravantti, Samantha Martin, Teijo Kuopio, Laura Lahtinen, FinnGen, Päivi Peltomäki, Jukka-Pekka Mecklin, Lauri A Aaltonen, Toni T Seppä |
Human Leukocyte Antigen-Allelic Variations May Influence the Age at Cancer Diagnosis in Lynch Syndrome. Journal of personalized medicine 2024 6 14 (6): . Lutricia Ndou, Ramadhani Chambuso, Ziyaad Valley-Omar, George Rebello, Ursula Algar, Paul Goldberg, Adam Boutall, Raj Rames |
Prognostic value of germline mutations in metastatic hormone-sensitive prostate cancer (mHSPC). Urologic oncology 2024 6 . Sara Custodio-Cabello, Vilma Pacheco-Barcia, Magda Palka-Kotlowska, Laura Fernández-Hernández, Julio Fernández Del Álamo, Eduardo Oliveros-Acebes, Luis Cabezón-Gutiérr |
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients. Familial cancer 2024 6 . Anthony Vladimir Campos Segura, Sara Iolanda Oliveira da Silva, Karina Miranda Santiago, Rafael Canfield Brianese, Dirce Maria Carraro, Giovana Tardin Torrez |
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 |
Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review. Frontiers in oncology 2024 6 14 1382154. Bosen Zhu, Ming Liu, Tianhao Mu, Wentao Li, Junqi Ren, Xiangtao Li, Yi Liang, Ziyi Yang, Yulin Niu, Shifu Chen, Junqiong L |
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome. Genes, chromosomes & cancer 2024 5 63 (5): e23237. Anne-Sophie van der Werf-'t Lam, Mar Rodriguez-Girondo, Mandy Villasmil, Carli M Tops, Liselotte van Hest, Hans J P Gille, Floor A M Duijkers, Anja Wagner, Ellis Eikenboom, Tom G W Letteboer, Mirjam M de Jong, Sanne W Bajwa-Ten Broeke, Fonnet Bleeker, Encarna B Gomez Garcia, Mev Dominguez-Valentin, Pal Møller, Manon Suerink, Maartje Niels |
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants. NPJ precision oncology 2024 5 8 (1): 119. Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimm |
Genomic profiling of small bowel adenocarcinoma: a pooled analysis from 3 databases. British journal of cancer 2024 5 . Thomas Aparicio, Julie Henriques, Magali Svrcek, Aziz Zaanan, Sylvain Manfredi, Andrea Casadei-Gardini, David Tougeron, Jean-Marc Gornet, Marine Jary, Eric Terrebonne, Guillaume Piessen, Pauline Afchain, Cédric Lecaille, Marc Pocard, Thierry Lecomte, Margherita Rimini, Frédéric Di Fiore, Valérie Le Brun Ly, Stefano Cascinu, Dewi Vernerey, Pierre Laurent Pu |
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 |
Genomic landscape of diploid and aneuploid microsatellite stable early onset colorectal cancer. Scientific reports 2024 4 14 (1): 9368. Yumei Zhou, Xianfeng Chen, Jun Chen, Conner D Kendrick, Ramesh K Ramanathan, Rondell P Graham, Kimberlee F Kossick, Lisa A Boardman, Michael T Barre |
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 |
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients. Familial cancer 2024 1 . Sabine Biermann, Michael Knapp, Peter Wieacker, Stefan Aretz, Verena Steinke-Lan |
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 |
Counselling and management of women with genetic predisposition to gynaecological cancers. European journal of obstetrics, gynecology, and reproductive biology 2024 1 294 44-48. Naushabah Malik, Banchhita Sa |
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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