Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 277 Records) |
| Query Trace: Syndrome and MSH2[original query] |
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| Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines. Virchows Archiv : an international journal of pathology 2023 8 . Kristyna Pivovarcikova, Tomas Pitra, Reza Alaghehbandan, Karolina Buchova, Petr Steiner, Veronika Hajkova, Nikola Ptakova, Ivan Subrt, Josef Skopal, Peter Svajdler, Mihaela Farcas, Maryna Slisarenko, Kvetoslava Michalova, Andrea Strakova Peterikova, Milan Hora, Michal Michal, Ondrej Daum, Marian Svajdler, Ondrej H |
| 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 |
| 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 |
| 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 |
| [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 |
| The clinical utility of next generation sequencing in endometrial cancer: focusing on molecular subtyping and lynch syndrome. Frontiers in genetics 2024 9 15 1440971. Yongzhen Guo, Guangwei Yan, Pei Zhang, Yixuan Liu, Chengquan Zhao, Xianxu Ze |
| Colonoscopy and Upper Endoscopy Surveillance in Lynch Syndrome: A Longitudinal Study From a Large Tertiary Healthcare System. Gastro hep advances 2024 9 3 (7): 995-1000. Elena Gibson, Haojia Li, Judith Staub, Deb Neklason, Megan Keener, Priyanka Kan |
| The Impact of Li Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes and Genetic Testing Recommendations. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 . Josephine K Dermawan, David H Abramson, Sarah Chiang, Martee L Hensley, William D Tap, Sujana Movva, Robert G Maki, Diana Mandelker, Cristina R Antones |
| 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 |
| 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 |
| 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 |
| 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 |
| Uncommon molecular alterations in follicular-derived thyroid carcinoma: A single institution study. Pathology, research and practice 2024 5 258 155355. Borislav A Alexiev, Erica R Vormittag-Nocito, Jochen Lorch, Anjana Yeldandi, Paul R Buttars, Lawrence J Jennin |
| Germline Variants in Sporadic Pituitary Adenomas. Journal of the Endocrine Society 2024 5 8 (6): bvae085. Ali S Alzahrani, Abdulghani Bin Nafisah, Meshael Alswailem, Balgees Alghamdi, Burair Alsaihati, Hussain Aljafar, Batoul Baz, Hindi Alhindi, Yosra Moria, Muhammad Imran Butt, Abdulrahman Ghiatheddin Alkabbani, Omalkhaire M Alshaikh, Anhar Alnassar, Ahmed Bin Afeef, Reem AlQuraa, Rawan Alsuhaibani, Omar Alhadlaq, Fayha Abothenain, Yasser A Altwaij |
| Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa. Journal of clinical pathology 2024 5 . Alessandro Pietro Aldera, Jana van der Westhuizen, Wan-Jung Tsai, May J Krause, Safiye Yildiz, Komala Pillay, Adam Boutall, Raj Rames |
| The Use of Glucagon-like Peptide-1 Receptor Agonists in Patients with Type 2 Diabetes Mellitus Does Not Increase the Risk of Pancreatic Cancer: A U.S.-Based Cohort Study. Cancers 2024 5 16 (9): . Mark Ayoub, Carol Faris, Tajana Juranovic, Harleen Chela, Ebubekir Daglil |
| Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education. Mayo Clinic proceedings 2024 12 . Lorelei A Bandel, Robert A Vierkant, Teresa M Kruisselbrink, Michelle L Bublitz, Tammy A Wilson, Sebastian M Armasu, Jan B Egan, Richard J Presutti, Niloy Jewel J Samadder, Aleksandar Sekulic, Rory J Olson, Jennifer Tan-Arroyo, Joel A Morales-Rosado, Eric W Klee, Matthew J Ferber, Jennifer L Kemppainen, Jennifer L Anderson, Jessa S Bidwell, Joseph J Wick, Victor E Ortega, William V Bobo, Pavel N Pichurin, Jessica M Mcmillan, DeAnna M Weaver, Douglas L Riegert-Johnson, Alanna M Cera, Lauren M Boucher, Iftikhar J Kullo, Sarah K Mantia, Matthew T Jones, Nicholas B Larson, Tony C Luehrs, Jon W Leitzke, Hugues Sicotte, Shulan Tian, Jennifer R Stavlund, Joel E Pacyna, Richard R Sharp, Akwasi A Asabere, James Lu, Tammy M McAllister, T'Nita S Walker, A Keith Stewart, Gianrico Farrugia, Konstantinos N Lazarid |
| Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort. Familial cancer 2024 12 24 (1): 13. Harsh Sheth, Jyoti Sadhwani, Abhinav Jain, S G Thenral, Vedam Ramprasad, D Timothy Bish |
| Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. International journal of molecular sciences 2024 12 25 (23): . Petra Nagy, János Papp, Vince Kornél Grolmusz, Anikó Bozsik, Tímea Pócza, Edit Oláh, Attila Patócs, Henriett Bu |
| Survival of Patients with Resected Microsatellite Instability-High, Mismatch Repair Deficient, and Lynch Syndrome-Associated Pancreatic Ductal Adenocarcinomas. Annals of surgical oncology 2024 12 . Ellis L Eikenboom, Naaz Nasar, Kenneth Seier, Mithat Gönen, Manon C W Spaander, Eileen M O'Reilly, William R Jarnagin, Jeffrey Drebin, Michael I D'Angelica, T Peter Kingham, Vinod P Balachandran, Kevin C Soares, Anja Wagner, Alice C W |
| The genetic landscape of Lynch syndrome in the Israeli population. Familial cancer 2024 11 24 (1): 6. Aasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, Eitan Friedman, Elizabeth Half, Gabi Lidzbarsky, Gili Reznick Levi, Ido Laish, Lior Katz, Lily Bazak, Lilach Peled Peretz, Lina Basel Salmon, Liza Douiev, Marina Lifshitc Kalis, Menachem Schechter, Michal Barzily-Rokni, Nadra Nasser Samra, Naim Abu-Freha, Ofir Hagari-Bechar, Ori Segol, Samar Mattar, Sarit Farage Barhom, Shikma Mordechai, Shiri Shkedi Rafid, Stavit A Shalev, Tamar Peretz-Yablonski, Zohar Levi, Revital Bruchim, Chana Vinkler, Rinat Bernstein-Molho, Sari Lieberman, Yael Goldbe |
| A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review. Frontiers in genetics 2024 10 15 1440179. Lan Zhong, Wenxiang Wang, Yuanqiong Duan, Liang Song, Zhanghuan Li, Kaixuan Yang, Qintong Li, Rutie Y |
| Anticipation in families with MLH1-associated Lynch syndrome. Cancer 2024 10 . Arti S Pandey, Christine Drogan, Dezheng Huo, Kristen Postula, Shreshtha M Garg, Sonia S Kupf |
| Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan. International journal of cancer 2024 10 . Ying Zheng, Natalia Vdovichenko, Peter Schürmann, Dhanya Ramachandran, Robert Geffers, Lisa-Marie Speith, Natalia Bogdanova, Julia Enßen, Natalia Dubrowinskaja, Tatyana Yugay, Zura Berkutovna Yessimsiitova, Nurzhan Turmanov, Peter Hillemanns, Thilo Dö |
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