Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 147 Records) |
| Query Trace: Disease and MSH2[original query] |
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| Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer. JAMA oncology 2023 9 . Burcu F Darst, Ed Saunders, Tokhir Dadaev, Xin Sheng, Peggy Wan, Loreall Pooler, Lucy Y Xia, Stephen Chanock, Sonja I Berndt, Ying Wang, Alpa V Patel, Demetrius Albanes, Stephanie J Weinstein, Vincent Gnanapragasam, Chad Huff, Fergus J Couch, Alicja Wolk, Graham G Giles, Tu Nguyen-Dumont, Roger L Milne, Mark M Pomerantz, Julie A Schmidt, Ruth C Travis, Timothy J Key, Konrad H Stopsack, Lorelei A Mucci, William J Catalona, Beth Marosy, Kurt N Hetrick, Kimberly F Doheny, Robert J MacInnis, Melissa C Southey, Rosalind A Eeles, Fredrik Wiklund, David V Conti, Zsofia Kote-Jarai, Christopher A Haim |
| 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 |
| 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 |
| 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 |
| 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 |
| Construction of a risk stratification model integrating ctDNA to predict response and survival in neoadjuvant-treated breast cancer. BMC medicine 2023 12 21 (1): 493. Zhaoyun Liu, Bo Yu, Mu Su, Chenxi Yuan, Cuicui Liu, Xinzhao Wang, Xiang Song, Chao Li, Fukai Wang, Jianli Ma, Meng Wu, Dawei Chen, Jinming Yu, Zhiyong |
| 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 |
| Genetic variability in cisplatin metabolic pathways and outcome of locally advanced head and neck squamous cell carcinoma patients. Scientific reports 2023 10 13 (1): 16762. Ana Maria Castro Ferreira, João Maurício Carrasco Altemani, Ligia Traldi Macedo, Gustavo Jacob Lourenço, Carmen Silvia Passos Li |
| 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 |
| Inherited mutations in Chinese patients with upper tract urothelial carcinoma. Cell reports. Medicine 2023 1 4 (1): 100883. Wu Junlong, Jin Shengming, Gu Chengyuan, Wei Yu, Zhu Yao, Necchi Andrea, Shariat Shahrokh F, Pan Jian, Gan Hualei, Dai Bo, Zhang Hailiang, Shi Guohai, Zhu Yu, Shen Yijun, Zhu Yiping, Ye Dingw |
| Somatic and germline mutations in endometrial cancer. Journal of medicine and life 2024 9 17 (6): 564-573. Robert Botea, Madalina Piron-Dumitrascu, Tiberiu Augustin Georgescu, Camil Laurentiu Bohiltea, Silviu Cristian Voinea, Valentin Nicolae Varlas, Simona Raluca Iacoban, Nicolae Suc |
| Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
| 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 |
| 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 |
| Prognostic implications of immunohistochemistry in patients with endometrial cancer. Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2024 7 65 (2): 185-193. Maria Bianca Anca-Stanciu, Andrei Manu, Maria Victoria Olinca, Bogdan C?t?lin Coroleuc?, Diana Elena Comanda?u, Ciprian Andrei Coroleuc?, C?lina Maier, Elvira Br?ti |
| Molecular classification improves preoperative risk assessment of endometrial cancer. Gynecologic oncology 2024 7 189 56-63. Silvia Cabrera, Vicente Bebia, Carlos López-Gil, Ana Luzarraga-Aznar, Melek Denizli, Lourdes Salazar-Huayna, Nihed Abdessayed, Josep Castellví, Eva Colas, Antonio Gil-More |
| 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 |
| MiRNA polymorphisms affect the prognosis of gastric cancer: insights from Xianyou, Fujian. Frontiers in oncology 2024 5 14 1355270. Ping Wu, Yuling Zhang, Yanping Lyu, Jingwen Chen, Yu Jiang, Jianjun Xiang, Baoying Liu, Chuancheng |
| 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 |
| 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 impact of telomere length on prostate cancer aggressiveness, genomic instability and health disparities. Scientific reports 2024 4 14 (1): 7706. Ruotian Huang, M S Riana Bornman, Phillip D Stricker, Ilma Simoni Brum, Shingai B A Mutambirwa, Weerachai Jaratlerdsiri, Vanessa M Hay |
| 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 |
| 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 |
| Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice. iScience 2024 11 27 (11): 111073. Chuanwei Wang, Jian Chen, Yanzhao Wang, Ningning Luo, Tiantian Han, Xiangyu Yin, Yunjie Song, Dongsheng Chen, Jie Go |
| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101246. Jacquelyn Powers, Heather Wachtel, Erica Trujillo, Heena Desai, Ryan Hausler, Laura Conway, Bradley Wubbenhorst, , , Susan M Domchek, Katherine L Nathanson, Kara N Maxwe |
| 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 |
| Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma. Frontiers in oncology 2024 10 14 1361928. Yongfeng Bi, Dong Wan, Si Chen, Huafei Chen, Lingchuan Guo, Xiaoshun He, Rong Rong, Jinyuan Xiao, Wei Gao, Sheng Xi |
- Page last reviewed:Feb 1, 2024
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