Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 182 Records) |
Query Trace: Syndrome and PMS2[original query] |
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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 |
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam. Familial cancer 2023 7 . Huu-Thinh Nguyen, Y-Thanh Lu, Duc-Huy Tran, Ba-Linh Tieu, Kien-Trung Le, Truong-Vinh Ngoc Pham, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Hoa Giang, Hung-Sang Ta |
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 |
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 |
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants. JAMA oncology 2023 5 . Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, Masayasu Horibe, Shruti Chandra, Shounak Majumder, Gloria M Petersen, Kari G Ra |
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 |
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 |
Colorectal surveillance outcomes from an institutional longitudinal cohort of lynch syndrome carriers. Frontiers in oncology 2023 5 13 1146825. Gabriel Del Carmen, Laura Reyes-Uribe, Daniel Goyco, Kyera Evans, Charles M Bowen, Jennifer L Kinnison, Valerie O Sepeda, Diane M Weber, Julie Moskowitz, Maureen E Mork, Selvi Thirumurthi, Patrick M Lynch, Miguel A Rodriguez-Bigas, Melissa W Taggart, Y Nancy You, Eduardo Vil |
BRAF V600E/RAS Mutations and Lynch Syndrome in Patients With MSI-H/dMMR Metastatic Colorectal Cancer Treated With Immune Checkpoint Inhibitors. The oncologist 2023 4 . Colle Raphael, Lonardi Sara, Cachanado Marine, Overman Michael J, Elez Elena, Fakih Marwan, Corti Francesca, Jayachandran Priya, Svrcek Magali, Dardenne Antoine, Cervantes Baptiste, Duval Alex, Cohen Romain, Pietrantonio Filippo, André Thier |
Pilot study of gene mutations associated with Lynch syndrome in Slovak patients with breast cancer. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2023 4 36 (2): 130-134. L Krasni?anová, R Saade, P Priš?áková, H Gbelcová, K Ka?avská, M Karaba, J Benca, M Mego, V Repis |
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 |
Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors. Laboratory investigation; a journal of technical methods and pathology 2023 2 102 (2): 160-171. Kim Hyunhee, Lim Ka Young, Park Jin Woo, Kang Jeongwan, Won Jae Kyung, Lee Kwanghoon, Shim Yumi, Park Chul-Kee, Kim Seung-Ki, Choi Seung-Hong, Kim Tae Min, Yun Hongseok, Park Sung-H |
[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 |
Hereditary cancer testing in a diverse sample across three breast imaging centers. Breast cancer research and treatment 2023 10 . Laura Westbrook, Darlene Miltenburg, Vivienne Souter, Melissa K Maisenbacher, Katherine L Howard, Youbao Sha, Maygol Yavari, Nicholas Kypraios, Angel Rodriguez, Jeffrey N Weitz |
Characterization of a germline variant MSH6 c.4001G >?C in a Lynch syndrome family. Molecular genetics & genomic medicine 2023 1 11 (2): e2104. Yang Ciyu, Misyura Maksym, Kane Sarah, Rai Vikas, Latham Alicia, Zhang Liyi |
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 |
PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps. Global medical genetics 2023 1 10 (1): 1-5. Poaty Henriette, Bouya Lauria Batamba, Lumaka Aimé, Mongo-Onkouo Arnaud, Gassaye De |
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 |
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 |
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 |
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients. Familial cancer 2024 6 . Anthony Vladimir Campos Segura, Sara Iolanda Oliveira da Silva, Karina Miranda Santiago, Rafael Canfield Brianese, Dirce Maria Carraro, Giovana Tardin Torrez |
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 |
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 |
- Page last reviewed:Feb 1, 2024
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