Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 88 Records) |
| Query Trace: Disease and PMS2[original query] |
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| Molecular Classification of Endometrial Carcinoma: Protocol for a Cohort Study. JMIR research protocols 2022 8 11 (8): e34461. Moreira Inês, Bartosch Carla, Teixeira Manuel, Ferreira Mar |
| Microsatellite instability in colon cancer: A single center experience from North India. Journal of cancer research and therapeutics 0 18 (3): 656-660. Arora Savita, Adhikari Narayan, Rathi Arun Kumar, Singh Kishore, Sakhuja Pu |
| 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 |
| Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset. Brain : a journal of neurology 2022 4 146 (3): 1075-1082. Trinh Joanne, Lüth Theresa, Schaake Susen, Laabs Björn-Hergen, Schlüter Kathleen, La? Joshua, Pozojevic Jelena, Tse Ronnie, König Inke, Jamora Roland Dominic, Rosales Raymond L, Brüggemann Norbert, Saranza Gerard, Diesta Cid Czarina E, Kaiser Frank J, Depienne Christel, Pearson Christopher E, Westenberger Ana, Klein Christi |
| The immunohistochemical molecular risk classification in endometrial cancer: A pragmatic and high-reproducibility method. Gynecologic oncology 2022 3 165 (3): 585-593. Perrone Emanuele, De Felice Francesca, Capasso Ilaria, Distefano Ettore, Lorusso Domenica, Nero Camilla, Arciuolo Damiano, Zannoni Gian Franco, Scambia Giovanni, Fanfani Frances |
| Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes. Nature communications 2022 3 13 (1): 1361. Kohaar Indu, Zhang Xijun, Tan Shyh-Han, Nousome Darryl, Babcock Kevin, Ravindranath Lakshmi, Sukumar Gauthaman, Mcgrath-Martinez Elisa, Rosenberger John, Alba Camille, Ali Amina, Young Denise, Chen Yongmei, Cullen Jennifer, Rosner Inger L, Sesterhenn Isabell A, Dobi Albert, Chesnut Gregory, Turner Clesson, Dalgard Clifton, Wilkerson Matthew D, Pollard Harvey B, Srivastava Shiv, Petrovics Gyor |
| 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 |
| The evaluation of gene mutation profiles by next-generation sequencing in diffuse large B-cell lymphoma. International journal of laboratory hematology 2022 12 . Özçal?ml? Azime, Erdo?du ?brahim Halil, Turgutkaya Atakan, Yava?o?lu ?rfan, Döger Füruzan Kaçar, Bolaman Ali Zah |
| The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021. Frontiers in genetics 2022 11 13 1020543. Roht Laura, Tooming Mikk, Rekker Kadri, Roomere Hanno, Toome Kadri, Murumets Ülle, Šamarina Ustina, Õunap Katrin, Kahre Tii |
| Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing? International journal of molecular sciences 2022 10 23 (19): . Infante Mar, Arranz-Ledo Mónica, Lastra Enrique, Abella Luis Enrique, Ferreira Raquel, Orozco Marta, Hernández Lara, Martínez Noemí, Durán Merced |
| The Genomic Landscape of Colorectal Cancer in the Saudi Arabian Population Using a Comprehensive Genomic Panel. Diagnostics (Basel, Switzerland) 2023 9 13 (18): . Ebtehal Alsolme, Saleh Alqahtani, Musa Fageeh, Duna Barakeh, Nitesh K Sharma, Serghei Mangul, Heather A Robinson, Amany Fathaddin, Charlotte A E Hauser, Malak Abedalthaga |
| 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 |
| 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 |
| 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 |
| Comparison of gene mutation profile in different lung adenocarcinoma subtypes by targeted next-generation sequencing. Medical oncology (Northwood, London, England) 2023 11 40 (12): 349. Shaowen Zhang, Ping Dong, Zongwei Pan, Qian Chen, Junqi Zhu, Zhangfan M |
| Comparative Analysis of Mutational Patterns in Triple Negative Breast Cancer Before and after Neoadjuvant Chemotherapy in Patients with Residual Disease. Gene 2023 11 147980. Ashish Singh, Josh Thomas Georgy, Sakthi Dhananjayan, Elanthenral Sigamani, Ajoy Oommen John, Anjana Joel, Jagan Chandramohan, Rajadurai Abarna, Grace Rebekah, Selvamani Backianathan, Deepak Thomas Abraham, Mazhuvanchary Jacob Paul, Raju Titus Chacko, Marie Therese Manipadam, Rekha P |
| 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 |
| 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 |
| Molecular classification of metastatic and recurrent endometrial endometrioid carcinoma: prognostic relevance among low- and high-stage tumours. Histopathology 2024 6 . Austin McHenry, Kelly Devereaux, Emily Ryan, Stephanie Chow, Grace Allard, Chandler C Ho, Carlos J Suarez, Ann Folkins, Eric Yang, Teri A Longacre, Vivek Charu, Brooke E Howi |
| 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 |
| 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 |
| Clinical Utility of a Novel Triplex Digital PCR Assay for Clone Monitoring in Sequential and Relapsed Pediatric B-Cell Acute Lymphoblastic Leukemia Patients. Pediatric blood & cancer 2024 11 e31443. Prateek Bhatia, Rozy Thakur, Sreejesh Sreedharanunni, Minu Singh, Meenakshi Malhotra, Swati Arora, Ashish George, Amita Treh |
| 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 |
| Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe. Breast cancer research and treatment 2024 10 . Lalawmpuii Pachuau, H Lalremmawia, Lalengkimi Ralte, Johan Vanlalpeka, Jeremy Lalrinsanga Pautu, Saia Chenkual, Thomas Zomuana, Sailo Tlau Lalruatfela, John Zohmingthanga, Lalchhandama Chhakchhuak, Ashok K Varma, Nachimuthu Senthil Kum |
- Page last reviewed:Feb 1, 2024
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