Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 342 Records) |
| Query Trace: Neoplasms and PMS2[original query] |
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| PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants. Hereditary cancer in clinical practice 2024 9 22 (1): 20. Wenche Sjursen, Hanne K Hyldebrandt, Liss Anne S Lavik, Bjørn Ivar Haukanes, Sarah Ariansen, Siri Briskemyr, Anna E Sylvander, Marianne T Haavind, Maren F Olsen, Elin S Røyset, Hildegunn Vetti, Astrid Stormorken, Eli Marie Grinded |
| 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 Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory. Cancer genomics & proteomics 2024 8 21 (5): 448-463. Nikolaos Tsoulos, Konstantinos Agiannitopoulos, Kevisa Potska, Anastasia Katseli, Christina Ntogka, Georgia Pepe, Dimitra Bouzarelou, Athanasios Papathanasiou, Dimitrios Grigoriadis, Georgios N Tsaousis, Helen Gogas, Theodore Troupis, Konstantinos Papazisis, Ioannis Natsiopoulos, Vassileios Venizelos, Kyriakos Amarantidis, Stylianos Giassas, Christos Papadimitriou, Elena Fountzilas, Maroulio Stathoulopoulou, Anna Koumarianou, Grigorios Xepapadakis, Alexandru Blidaru, Daniela Zob, Oana Voinea, Mustafa Özdo?an, Mahmut Çerkez Ergören, Alinta Hegmane, Eirini Papadopoulou, George Nasioulas, Christos Markopoul |
| 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 |
| 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 |
| Clinicopathologic and molecular characteristics of neuroendocrine carcinomas of the gallbladder. Histology and histopathology 2024 7 18788. Hui Tang, Xiaojun Jiang, Lili Zhu, Liming Xu, Xiaoxi Wang, Hong Li, Feifei Gao, Xinxin Liu, Chuanli Ren, Yan Zh |
| The landscape of rare genetic variants in familial Waldenström macroglobulinemia. Blood neoplasia 2024 7 1 (2): . Alexander Pemov, Jung Kim, Wen Luo, Jia Liu, Cole Graham, Kristine Jones, Delphine DeMangel, Neal D Freedman, Charles Dumontet, Bin Zhu, Mary L McMaster, Douglas R Stewa |
| 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 |
| 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 |
| Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data. The Journal of molecular diagnostics : JMD 2024 6 . Elisabet Munté, Lídia Feliubadaló, Jesús Del Valle, Sara González, Mireia Ramos-Muntada, Judith Balmaña, Teresa Ramon Y Cajal, Noemí Tuset, Gemma Llort, Juan Cadiñanos, Joan Brunet, Gabriel Capellá, Conxi Lázaro, Marta Pine |
| Predictors for dMMR colorectal cancer in patients with serrated lesions and polyps - A register-based cohort study. Cancer epidemiology 2024 6 91 102601. Mille Kyhn Andrea, Rikke Karlin Jepsen, Mads Falk Klein, Ismail Gögenur, Tine Plato Kuhlma |
| Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors. Cancer medicine 2024 6 13 (12): e7340. Rebekah M Summey, Erica Gornstein, Brennan Decker, Kali C Dougherty, Janet S Rader, Elizabeth Ho |
| 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 |
| The role of family history in predicting germline pathogenic variant carriers who develop pancreatic cancer: Results of a multicenter collaboration. Cancer 2024 5 . Eve Karloski, Beth Dudley, Brenda Diergaarde, Amie Blanco, Jessica N Everett, Elana Levinson, Tara Rangarajan, Peter P Stanich, Kimberly Childers, Sandra Brown, Christine Drogan, Giulia Martina Cavestro, Kelly Gordon, Aparajita Singh, Diane M Simeone, Hannah Reich, Fay Kastrinos, Dana Zakalik, Heather Hampel, Rachel Pearlman, Ora K Gordon, Sonia S Kupfer, Marta Puzzono, Raffaella Alessia Zuppardo, Randall E Bra |
| Different genetic profiles contribute to worse overall survival in patients with leptomeningeal metastases of non-small-cell lung cancer. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2024 5 . Xusheng Tang, Xiaojuan Hu, Lin Yuan, Hainan Yang, Yunfen Luo, Da Liu, Qingjun Hu, Changguo Shan, Tao Lin, Linbo Cai, Zhaoming Zhou, Xin Jin, Ming Lei, Weiping Ho |
| 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 |
| Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ?50 years. Cancer 2024 4 . Rinat Bernstein-Molho, Narmeen Abu Shhada, Yael Laitman, Iris Netzer, Shelley Shoval, Eitan Friedm |
| Overview of a comparative analysis of microsatellite instability and standard mismatch repair protein-deficiency tests in a large cancer cohort. Pathologie (Heidelberg, Germany) 2024 12 . András Kiss, Maja L Nádorvári, Janina Kulka, Tamás Barbai, Erzsébet Rásó, István Kenessey, Gábor Lotz, József Tím |
| 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 |
| Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer. JCO precision oncology 2024 12 8 e2400553. Kara K Landry, Michael J DeSarno, Lindsay Kipnis, Farid Barquet Ramos, Katelyn M Breen, Kaleigh Patton, Audrey Morrissette, Ryan M Buehler, Chinedu Ukaegbu, Mersedeh Rohanizadegan, Matthew B Yurgelun, Sapna Syngal, Huma Q Rana, Judy E Garb |
| 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 |
| 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 |
| 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 |
| Impact of population screening for Lynch syndrome insights from the All of Us data. Nature communications 2025 1 16 (1): 523. Jiheum Park, Hemanth Karnati, Sheila D Rustgi, Chin Hur, Xiao-Fei Kong, Fay Kastrin |
- Page last reviewed:Feb 1, 2024
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