Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 496 Records) |
Query Trace: Hereditary cancer[original query] |
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Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome. Frontiers in oncology 2023 9 13 1222873. Ying Zhang, Xiaolu Wang, Yuning Zhu, Chong Liang, Lijun Zhao, Qi Meng, Jiani C Yin, Yuqian Shi, Fufeng Wang, Feng Qin, Ji Xu |
Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre. Scientific reports 2023 8 13 (1): 14259. Henriett Butz, Anikó Bozsik, Vince Grolmusz, Erika Sz?cs, János Papp, Attila Pató |
Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing. Cancer genomics & proteomics 2023 8 20 (5): 448-455. Konstantinos Agiannitopoulos, Georgia Pepe, Georgios N Tsaousis, Kevisa Potska, Dimitra Bouzarelou, Anastasia Katseli, Christina Ntogka, Angeliki Meintani, Nikolaos Tsoulos, Stylianos Giassas, Vassileios Venizelos, Christos Markopoulos, Rodoniki Iosifidou, Sofia Karageorgopoulou, Christos Christodoulou, Ioannis Natsiopoulos, Konstantinos Papazisis, Maria Vasilaki-Antonatou, Eleftherios Kabletsas, Amanta Psyrri, Dimitrios Ziogas, Efthalia Lalla, Anna Koumarianou, Kornilia Anastasakou, Christos Papadimitriou, Vahit Ozmen, Sualp Tansan, Kerim Kaban, Tahsin Ozatli, Dan Tudor Eniu, Angelica Chiorean, Alexandru Blidaru, Marrit Rinsma, Eirini Papadopoulou, George Nasioul |
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia. Hereditary cancer in clinical practice 2023 8 21 (1): 16. M F Broekema, E J W Redeker, M T Uiterwaal, L P van He |
Which Patients Do We Need to Test for BRCA1/2 Mutation? Feasibility of Adjuvant Olaparib Treatment in Early Breast Cancer-Real-World Data from Two Large German Breast Centers. Cancers 2023 8 15 (15): . Dominik Dannehl, Tobias Engler, Léa Louise Volmer, Christian Martin Tegeler, Julia Fusshoeller, Emma Gabrysch, Kenneth Eissler, Anna Seller, Eva-Maria Grischke, Markus Hahn, Ines Gruber, Fabienne Schochter, Kerstin Pfister, Kristina Veselinovic, Elena Leinert, Brigitte Rack, Visnja Fink, Wolfgang Janni, Sara Yvonne Brucker, Andreas Daniel Hartkopf, Henning Schäffl |
Genetic risk assessment of lethal prostate cancer using polygenic risk score and hereditary cancer susceptibility genes. Journal of translational medicine 2023 7 21 (1): 446. Xiaohao Ruan, Da Huang, Jingyi Huang, James Hok-Leung Tsu, Rong |
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 |
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 |
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 |
[Hereditary colorectal carcinogenesis]. Pathologie (Heidelberg, Germany) 2023 6 . Hendrik Bläk |
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 |
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 |
Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis. Frontiers in genetics 2023 4 14 1060504. Anaclerio Federico, Pilenzi Lucrezia, Dell'Elice Anastasia, Ferrante Rossella, Grossi Simona, Ferlito Luca Maria, Marinelli Camilla, Gildetti Simona, Calabrese Giuseppe, Stuppia Liborio, Antonucci Iva |
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood. Clinical genetics 2023 3 . Schwartz Mathias, Moncoutier Virginie, Peytral Adrien, Le Gall Jessica, Suybeng Voreak, Pagès Mélanie, Masliah-Planchon Julien, Trabelsi-Grati Olfa, Melaabi Samia, Callens Céline, Bièche Ivan, Delhomelle Hélène, De Pauw Antoine, Saule Claire, Mouret-Fourme Emmanuelle, Gauthier-Villars Marion, Buecher Bruno, Colas Chrystelle, Stoppa-Lyonnet Dominique, Golmard Li |
Germline pathogenic variants in patients with early onset neuroendocrine neoplasms. Endocrine-related cancer 2023 3 . Riechelmann Rachel Pimenta, Donadio Mauro D, Jesus Victor Hugo F de, de Carvalho Nathalia de Angelis, Santiago Karina Miranda, Barros Milton J, Lopes Laura, Santos Gabriel Oliveira Dos, Formiga Maria Nirvana, Carraro Dirce Maria, Torrezan Giovana Tard |
Cancer Risk Factors in Southern Brazil: Report of a Comprehensive, Matched Case-Control Study. JCO global oncology 2023 12 9 e2300006. Juliana Giacomazzi, Patricia Klarmann Ziegelmann, Samanta da Costa, Camila Matzenbacher Bittar, Fernando Mariano Obst, Clévia Rosset, Gabriel S Macedo, Hugo Bock, Thais Canal, Mari Ines Paese, Jean Lucas Benvenuti, Maria Carolina Buj, Patricia Ashton-Prolla, José Roberto Goldim, Roberta Poz |
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations. Clinica chimica acta; international journal of clinical chemistry 2023 12 552 117695. Mar Infante, Mónica Arranz-Ledo, Enrique Lastra, Amaya Olaverri, Raquel Ferreira, Marta Orozco, Lara Hernández, Noemí Martínez, Mercedes Dur |
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2023 12 37 (6): 431-439. M Janatová, Š Chvojka, E Machá?ková, J Soukupová, P Zemánková, P Nehasil, T Zavoral, L Hrušková, K M Kozáková Janíková, F Lhota, S Tavandzis, P Kleiblová, Z Kleibl, Czecanca Konzorci |
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-designed Next Generation Sequencing Panel. The Journal of molecular diagnostics : JMD 2023 12 . Fumin Lin, Kajia Cao, Fengqi Chang, Joseph H Oved, Minjie Luo, Zhiqian Fan, Jeffrey Schubert, Jinhua Wu, Yiming Zhong, Daniel J Gallo, Elizabeth H Denenberg, Jiani Chen, Elizabeth A Fanning, Michele P Lambert, Michele E Paessler, Lea F Surrey, Kristin Zelley, Suzanne MacFarland, Peter Kurre, Timothy S Olson, Marilyn M |
[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 |
Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected. Breast disease 2023 11 42 (1): 341-347. Adarsh Dharmarajan, Vipin Gopinath, Sangeetha Keloth Nayanar, Sobhith Velandi Kunnummal, Satheesan Balasubramanian, Deepak Roshan Valiyaparambil Go |
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience. Hereditary cancer in clinical practice 2023 11 21 (1): 23. Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura, Takeshi Nagaya |
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan. Hereditary cancer in clinical practice 2023 11 21 (1): 22. Noor Muhammad, Ayesha Azeem, Shumaila Arif, Humaira Naeemi, Iqra Masood, Usman Hassan, Bushra Ijaz, Faisal Hanif, Aamir Ali Syed, Muhammed Aasim Yusuf, Muhammad Usman Rash |
Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer. ESMO open 2023 11 8 (6): 102051. F Gimeno-Valiente, J Martín-Arana, R Tébar-Martínez, V Gambardella, C Martínez-Ciarpaglini, B García-Micó, B Martínez-Castedo, B Palomar, M García-Bartolomé, V Seguí, M Huerta, D Moro-Valdezate, V Pla-Martí, L Pérez-Santiago, S Roselló, D Roda, A Cervantes, N Tarazo |
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 |
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma. JAMA dermatology 2024 1 . Noreen Mohsin, Devin Hunt, Jia Yan, Austin J Jabbour, Paul Nghiem, Jaehyuk Choi, Yue Zhang, Alexandra F Freeman, Jenna R E Bergerson, Stefania Dell'Orso, Kristina Lachance, Rima Kulikauskas, Loren Collado, Wenjia Cao, Justin Lack, Morgan Similuk, Bryce A Seifert, Rajarshi Ghosh, Magdalena A Walkiewicz, Isaac Browne |
Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer? Cancers 2024 1 16 (2): . Jesús Peña-López, Diego Jiménez-Bou, Icíar Ruíz-Gutiérrez, Gema Martín-Montalvo, María Alameda-Guijarro, Antonio Rueda-Lara, Leticia Ruíz-Giménez, Oliver Higuera-Gómez, Alejandro Gallego, Ana Pertejo-Fernández, Darío Sánchez-Cabrero, Jaime Feliu, Nuria Rodríguez-Sal |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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