Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 93 Records) |
Query Trace: Syndrome and APC[original query] |
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Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis. The Journal of molecular diagnostics : JMD 2021 8 23 (11): 1452-1459. Rofes Paula, González Sara, Navarro Matilde, Moreno-Cabrera José Marcos, Solanes Ares, Darder Esther, Carrasco Estela, Iglesias Sílvia, Salinas Mónica, Gómez Carolina, Velasco Àngela, Tuset Noemí, Varela Mar, Llort Gemma, Ramon Y Cajal Teresa, Grau Èlia, Dueñas Núria, de la Ossa Merlano Napoleón, Matías-Guiu Xavier, Rivera Bárbara, Balmaña Judith, Pineda Marta, Brunet Joan, Capellá Gabriel, Del Valle Jesús, Lázaro Con |
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 |
High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocrine pathology 2021 7 32 (3): 336-346. Bae Ja-Seong, Jung Seung-Hyun, Hirokawa Mitsuyoshi, Bychkov Andrey, Miyauchi Akira, Lee Sohee, Chung Yeun-Jun, Jung Chan Kw |
Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population. Cancer 2021 6 127 (19): 3599-3604. Bernstein-Molho Rinat, Galmor Lee, Laitman Yael, Segev Shlomo, Friedman Eit |
Genetic testing for assessment of lynch syndrome in young patients with polyps. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2021 Jun . Laish Ido, Goldberg Yael, Friedman Eitan, Kedar Inbal, Katz Lior, Levi Zohar, Gingold-Belfer Rachel, Kopylov Uri, Feldman Dan, Levi-Reznick Gili, Half Elizabe |
Homozygous Germline APC p.I1307K Variants: A Case Series. Case reports in oncology 0 14 (3): 1295-1303. Rosenblum Alexa, Springer Michelle, Eppolito Amanda, Axell Lisen, Mohler Li |
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 |
[Hereditary gastric cancer syndromes and their association with specific histological subtypes]. Bulletin du cancer 2022 8 . Dardenne Antoine, Sirmai Laura, Metras Julie, Enea Diana, Svrcek Magali, Benusiglio Patrick |
Identification of Germline Mutations in Genes Involved in Classic FAP in Patients from Northern Brazil. Cancer diagnosis & prognosis 2022 5 2 (3): 405-410. DI Felipe Ávila Alcantara Diego, Lima Júnior Sergio Figueiredo, DE Assumpção Paulo Pimentel, Lamarão Leticia Martins, DE Castro Sant'anna Carla, Moreira-Nunes Caroline Aquino, Burbano Rommel Rodrigu |
Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer. Cancer biology & medicine 2022 5 19 (8): 1235-48. Li Yan, Fan Lihong, Zheng Jianming, Nie Xiu, Sun Yu, Feng Qin, Lian Shenyi, Bai Wenqi, Cai Weijing, Yang Yanan, Su Bo, Xi Yanfeng, Lin Dongm |
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome. Frontiers in oncology 2022 4 12 774202. Guan Bao, Wang Jie, Li Xuesong, Lin Lin, Fang Dong, Kong Wenwen, Tian Chuangyu, Li Juan, Yang Kunlin, Han Guanpeng, Wu Yucai, He Yuhui, Peng Yiji, Yu Yanfei, He Qun, He Shiming, Gong Yanqing, Zhou Liqun, Tang |
Low Mutational Burden of Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue in Patients with Primary Sjogren's Syndrome. Cancers 2022 2 14 (4): . Bult Johanna A A, Plaça Jessica R, Haacke Erlin A, Terpstra M Martijn, Verstappen Gwenny M, Spijkervet Frederik K L, Kroese Frans G M, Plattel Wouter J, Vermaat Joost S P, Bootsma Hendrika, van der Vegt Bert, Diepstra Arjan, van den Berg Anke, Kok Klaas, Nijland Marc |
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
Colorectal carcinoma occurring via the adenoma-carcinoma pathway in patients with serrated polyposis syndrome. Journal of gastroenterology 2022 2 57 (4): 286-299. Nakamura Fumika, Sato Yasushi, Okamoto Koichi, Fujino Yasuteru, Mitsui Yasuhiro, Kagemoto Kaizo, Kawaguchi Tomoyuki, Miyamoto Hiroshi, Muguruma Naoki, Sonoda Tomoko, Tsuneyama Koichi, Takayama Tetsu |
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients. Cancer genetics 2022 2 262-263 95-101. Lee Jong Kwon, Kwon Won Kyung, Hong Sung Noh, Chang Dong Kyung, Kim Hee Cheol, Jang Ja-Hyun, Kim Jong-W |
Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report. Molecular biology reports 2022 2 49 (5): 3823-3837. Khider Feriel, Cherbal Farid, Boumehdi Asma-Lamia, Layaida Karim, Mahfouf Hassen, Zebboudj Ferhat, Maaoui Mustap |
Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology 2022 11 9 (1): 95-101. Holowatyj Andreana N, Washington Mary K, Tavtigian Sean V, Eng Cathy, Horton Carol |
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
Pancreatoblastoma in Elderly Adults: Report of Two Patients. International journal of surgical pathology 2022 10 10668969221133347. Kulak Ozlem, Osipov Arsen, Hendifar Andrew E, Nissen Nicholas N, Cox Brian K, Hruban Ralph H, Hutchings Danielle |
Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort. Frontiers in oncology 2021 11 789659. Tran Van Thuan, Nguyen Sao Trung, Pham Xuan Dung, Phan Thanh Hai, Nguyen Van Chu, Nguyen Huu Thinh, Nguyen Huu Phuc, Doan Phuong Thao Thi, Le Tuan Anh, Nguyen Bao Toan, Jasmine Thanh Xuan, Nguyen Duy Sinh, Nguyen Hong-Dang Luu, Nguyen Ngoc Mai, Do Duy Xuan, Tran Vu Uyen, Nguyen Hue Hanh Thi, Le Minh Phong, Nguyen Yen Nhi, Do Thanh Thuy Thi, Truong Dinh Kiet, Tang Hung Sang, Phan Minh-Duy, Nguyen Hoai-Nghia, Giang Hoa, Tu Lan |
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population. Cancer biology & medicine 2022 1 19 (5): 707-32. Yao Jianfei, Zhen Yunhuan, Fan Jing, Gong Yuan, Ye Yumeng, Guo Shaohua, Liu Hongyi, Li Xiaoyun, Li Guosheng, Yang Pan, Wang Xiaohui, Liu Danni, Huang Tanxiao, Cao Huiya, Suo Peisu, Li Yuemin, Yu Jingbo, Song Le |
Completion of Genetic Testing and Incidence of Pathogenic Germline Mutation among Patients with Early-Onset Colorectal Cancer: A Single Institution Analysis. Cancers 2023 7 15 (14): . Michael H Storandt, Kara R Rogen, Anushka Iyyangar, Rylie R Schnell, Jessica L Mitchell, Joleen M Hubbard, Frank A Sinicrope, Aminah Jatoi, Amit Mahipal, Qian Shi, Zhaohui J |
The Impact of Germline Alterations in Appendiceal Adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 6 OF1-OF7. Michael B Foote, Henry Walch, Yelena Kemel, Efsevia Vakiani, Paul Johannet, Margaret Sheehan, Walid Chatila, Sebastian Chung, Garrett M Nash, Anna Maio, Jinru Shia, Diana Mandelker, Michael Berger, Nikolaus Schultz, Luis A Diaz, Andrea Cercek, Zsofia K Stadl |
Somatic and Germline Variants Affect Prognosis and Susceptibility in Prostate Cancer. Anticancer research 2023 6 43 (7): 2941-2949. Christian Rocca, Giulia Rocca, Pietro Zampieri, Lucio Dell'atti, Nicoletta Bianchi, Carmelo Ippolito, Gianluca Aguia |
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 |
The impact of germline alterations in appendiceal adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 5 . Michael B Foote, Henry Walch, Yelena Kemel, Efsevia Vakiani, Paul Johannet, Margaret Sheehan, Walid Chatila, Sebastian Chung, Garrett Nash, Anna Maio, Jinru Shia, Diana Mandelker, Michael Berger, Nikolaus Schultz, Luis A Diaz, Andrea Cercek, Zsofia K Stadl |
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 |
A novel APC mutation associated with Gardner syndrome in a Chinese family. Gene 2023 12 896 148051. Ming Zeng, Xinchen Yao, Yuhua Pan, Hongxiang Gu, Fu Xiong, Xuemin Yin, Buling Wu, Ting Ch |
[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 |
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:Apr 22, 2024
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