Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 508 Records) |
| Query Trace: Lynch syndrome[original query] |
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| Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report. Frontiers in oncology 2023 9 13 1195814. Firas Akrout, Ahlem Achour, Carli M J Tops, Richard Gallon, Rym Meddeb, Sameh Achoura, Mariem Ben Rekaya, Emna Hamdeni, Soumaya Rammeh, Ridha Chkili, Nada Mansouri, Neila Belguith, Ridha Mr |
| Identification and genetic counseling for a novel variant of MLH1 associated with lynch syndrome in colorectal cancer: a case report. Gastroenterology report 2023 8 11 goad049. Xiaohuan Lu, Hongyan Zhang, Luming Xu, Yang Cao, Yuan Li, Wei Li, Gang Li, Feng Xue, Zheng Wa |
| 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 |
| 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 |
| Completion of Genetic Testing and Incidence of Pathogenic Germline Mutation among Patients with Early-Onset Colorectal Cancer: A Single Institution Analysis. Cancers 2023 7 15 (14): . Michael H Storandt, Kara R Rogen, Anushka Iyyangar, Rylie R Schnell, Jessica L Mitchell, Joleen M Hubbard, Frank A Sinicrope, Aminah Jatoi, Amit Mahipal, Qian Shi, Zhaohui J |
| 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 |
| Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer. Hereditary cancer in clinical practice 2023 7 21 (1): 13. Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolo |
| 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 |
| Mutational pattern off homologous recombination repair (HRR)-related genes in upper tract urothelial carcinoma. Cancer medicine 2023 6 . Kaiwei Yang, Wei Yu, Huanhuan Liu, Feng Lou, Shanbo Cao, Huina Wang, Zhisong |
| Molecular testing of endometrial carcinoma in real-world clinical practice. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2023 6 36 (3): 215-223. M Bedna?íková, J Hausnerová, L Miná?, R Taslerová, P Vinklerová, L Ehrlichová, J Trizuljak, I Blaháková, D Princ, K Matulová, P Ovesná, O Slabý, V Weinberg |
| A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report. Familial cancer 2023 6 . Romy Walker, Mark Clendenning, Jihoon E Joo, Jessie Xue, Khalid Mahmood, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G Preston, James M Chan, Mark A Jenkins, Christophe Rosty, Finlay A Macrae, Stephanie Di Palma, Ainsley Campbell, Ingrid M Winship, Daniel D Buchan |
| 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 |
| Germline multigene panel testing of patients with endometrial cancer. Oncology letters 2023 5 25 (6): 216. Jan Kral, Sandra Jelinkova, Petra Zemankova, Michal Vocka, Marianna Borecka, Leona Cerna, Marta Cerna, Lukas Dostalek, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Stepan Chvojka, Marta Kalousova, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Petr Nehasil, Jan Novotny, Barbora Otahalova, Alena Puchmajerova, Marketa Safarikova, Jiri Slama, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Michal Zikan, Tomas Zima, Jana Soukupova, Petra Kleiblova, Zdenek Kleibl, Marketa Janato |
| Germline drivers of gynecologic carcinosarcomas. Gynecologic oncology 2023 5 174 34-41. Tiffany Y Sia, Sushmita B Gordhandas, Ozge Birsoy, Yelena Kemel, Anna Maio, Erin Salo-Mullen, Margaret Sheehan, Martee L Hensley, Maria Rubinstein, Vicky Makker, Rachel N Grisham, Roisin E O'Cearbhaill, Kara Long Roche, Jennifer J Mueller, Mario M Leitao, Yukio Sonoda, Dennis S Chi, Nadeem R Abu-Rustum, Michael F Berger, Lora H Ellenson, Alicia Latham, Zsofia Stadler, Kenneth Offit, Carol Aghajanian, Britta Weigelt, Diana Mandelker, Ying L L |
| 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 |
| MLH1 Loss in Primary Prostate Cancer. JCO precision oncology 2023 5 7 e2200611. Sanaz Nourmohammadi Abadchi, Laura A Sena, Emmanuel S Antonarakis, Colin C Pritchard, James R Eshleman, Eric Q Konnick, Stephen J Salipante, Eugene Shenderov, Tamara L Lot |
| 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 |
| A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome. Journal of translational medicine 2023 4 21 (1): 282. Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T Harris, Alex Henderson, Megan Higgins, John L Hopper, Ryan A Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O'Connell, Nicholas Pachter, Bernard J Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K Win, Michael D Walsh, Finlay A Macrae, Mark A Jenkins, Christophe Rosty, Ingrid M Winship, Daniel D Buchanan, |
| Lynch syndrome: influence of additional susceptibility variants on cancer risk. European journal of human genetics : EJHG 2023 4 . Roseline Vibert, Jasmine Hasnaoui, Alexandre Perrier, Alexandra Lefebvre, Chrystelle Colas, Marion Dhooge, Noémie Basset, Albain Chansavang, Camille Desseignes, Alex Duval, Solenne Farelly, Nadim Hamzaoui, Pierre Laurent-Puig, Julie Metras, Diane Moliere, Martine Muleris, Jeanne Netter, Mehdi Touat, Franck Bielle, Karim Labreche, Romain Nicolle, Géraldine Perkins, Mathilde Warcoin, Florence Coulet, Patrick R Benusigl |
| 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 |
| [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 |
| Gut microbial signatures are associated with Lynch syndrome (LS) and cancer history in Druze communities in Israel. Scientific reports 2023 11 13 (1): 20677. Rawi Naddaf, Shaqed Carasso, Gili Reznick-Levi, Erez Hasnis, Amalfi Qarawani, Itay Maza, Tal Gefen, Elizabeth Emily Half, Naama Geva-Zators |
| 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 |
| Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort. Cancers 2023 10 15 (20): . Antonino Pantaleo, Giovanna Forte, Filomena Cariola, Anna Maria Valentini, Candida Fasano, Paola Sanese, Valentina Grossi, Antonia Lucia Buonadonna, Katia De Marco, Martina Lepore Signorile, Anna Filomena Guglielmi, Andrea Manghisi, Gianluigi Gigante, Raffaele Armentano, Vittoria Disciglio, Cristiano Simo |
| 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 |
| Adoption of Universal Testing in Endometrial Cancers for Microsatellite Instability Using Next-Generation Sequencing. JCO precision oncology 2023 10 7 e2300033. Isabel V Rodriguez, Sarah Strickland, David Wells, Enna Manhardt, Eric Q Konnick, Rochelle Garcia, Elizabeth Swisher, Mark Kilgore, Barbara Norqui |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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