Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 74 Records) |
| Query Trace: Syndrome and CHEK2[original query] |
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| Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions. International journal of molecular sciences 2021 Jul 22 (14): . Guglielmi Chiara, Scarpitta Rosa, Gambino Gaetana, Conti Eleonora, Bellè Francesca, Tancredi Mariella, Cervelli Tiziana, Falaschi Elisabetta, Cosini Cinzia, Aretini Paolo, Congregati Caterina, Marino Marco, Patruno Margherita, Pilato Brunella, Spina Francesca, Balestrino Luisa, Tenedini Elena, Carnevali Ileana, Cortesi Laura, Tagliafico Enrico, Tibiletti Maria Grazia, Tommasi Stefania, Ghilli Matteo, Vivanet Caterina, Galli Alvaro, Caligo Maria Adelai |
| Germline Predisposition to Prostate Cancer in Diverse Populations. The Urologic clinics of North America 2021 7 48 (3): 411-423. Bree Kelly K, Hensley Patrick J, Pettaway Curtis |
| Investigation of Hereditary Cancer Predisposition Genes of Patients with Colorectal Cancer: Single-centre Experience. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2021 Jul 30 (7): 811-816. Duzkale Neslihan, Oz Ozlem, Turkmenoglu Tugba Taskin, Cetinkaya Kadir, Eren Tulay, Yalcin Suay |
| Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population. Cancer 2021 6 127 (19): 3599-3604. Bernstein-Molho Rinat, Galmor Lee, Laitman Yael, Segev Shlomo, Friedman Eit |
| Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan. Oncology 2021 12 100 (3): 163-172. Fukushima Hiroko, Suzuki Ryoko, Yamaki Yuni, Hosaka Sho, Inaba Masako, Muroi Ai, Tsurubuchi Takao, Morii Wataru, Noguchi Emiko, Takada Hidetos |
Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.
Human reproduction (Oxford, England) 2021 11 . Tyrmi Jaakko S, Arffman Riikka K, Pujol-Gualdo Natàlia, Kurra Venla, Morin-Papunen Laure, Sliz Eeva, , Piltonen Terhi T, Laisk Triin, Kettunen Johannes, Laivuori Hanne |
| Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis. Hereditary cancer in clinical practice 2021 10 19 (1): 46. Wallander Karin, Thonberg Håkan, Nilsson Daniel, Tham Em |
| Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.
Human molecular genetics 2021 9 31 (3): 347-361. Little Amarise, Hu Yao, Sun Quan, Jain Deepti, Broome Jai, Chen Ming-Huei, Thibord Florian, McHugh Caitlin, Surendran Praveen, Blackwell Thomas W, Brody Jennifer A, Bhan Arunoday, Chami Nathalie, de Vries Paul S, Ekunwe Lynette, Heard-Costa Nancy, Hobbs Brian D, Manichaikul Ani, Moon Jee-Young, Preuss Michael H, Ryan Kathleen, Wang Zhe, Wheeler Marsha, Yanek Lisa R, Abecasis Goncalo R, Almasy Laura, Beaty Terri H, Becker Lewis C, Blangero John, Boerwinkle Eric, Butterworth Adam S, Choquet Hélène, Correa Adolfo, Curran Joanne E, Faraday Nauder, Fornage Myriam, Glahn David C, Hou Lifang, Jorgenson Eric, Kooperberg Charles, Lewis Joshua P, Lloyd-Jones Donald M, Loos Ruth J F, Min Yuan-I, Mitchell Braxton D, Morrison Alanna C, Nickerson Deborah A, North Kari E, O'Connell Jeffrey R, Pankratz Nathan, Psaty Bruce M, Vasan Ramachandran S, Rich Stephen S, Rotter Jerome I, Smith Albert V, Smith Nicholas L, Tang Hua, Tracy Russell P, Conomos Matthew P, Laurie Cecelia A, Mathias Rasika A, Li Yun, Auer Paul L, , Thornton Timothy, Reiner Alexander P, Johnson Andrew D, Raffield Laura |
| Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes. Clinical genitourinary cancer 2022 9 20 (6): 568-574. Mossanen Matthew, Nassar Amin H, Stokes Samantha M, Martinez-Chanza Nieves, Kumar Vivek, Nuzzo Pier Vitale, Kwiatkowski David J, Garber Judy E, Curran Catherine, Freeman Dory, Preston Mark, Mouw Kent W, Kibel Adam, Choueiri Toni K, Sonpavde Guru, Rana Huma |
| Rare coding variants in DNA damage repair genes associated with timing of natural menopause. HGG advances 2022 Apr 3 (2): 100079. Ward Lucas D, Parker Margaret M, Deaton Aimee M, Tu Ho-Chou, Flynn-Carroll Alexander O, Hinkle Gregory, Nioi Pa |
| 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 |
| New insights on familial colorectal cancer type X syndrome. Scientific reports 2022 2 12 (1): 2846. Garcia Felipe Antonio de Oliveira, de Andrade Edilene Santos, de Campos Reis Galvão Henrique, da Silva Sábato Cristina, Campacci Natália, de Paula Andre Escremin, Evangelista Adriane Feijó, Santana Iara Viana Vidigal, Melendez Matias Eliseo, Reis Rui Manuel, Palmero Edenir In |
| The performance of multi-gene panels for breast/ovarian cancer predisposition. Clinica chimica acta; international journal of clinical chemistry 2022 12 539 151-161. Nunziato Marcella, Scaglione Giovanni Luca, Di Maggio Federica, Nardelli Carmela, Capoluongo Ettore, Salvatore Frances |
| Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology 2022 11 9 (1): 95-101. Holowatyj Andreana N, Washington Mary K, Tavtigian Sean V, Eng Cathy, Horton Carol |
| Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
| Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition. Journal of human genetics 2022 1 67 (6): 339-345. Macquere P, Orazio S, Bonnet F, Jones N, Bubien V, Chiron J, Lafon D, Barouk-Simonet E, Tinat J, Venat-Bouvet L, Gesta P, Longy M, Sevenet |
| 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 |
| Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome. Blood advances 2023 7 . Francesca Guijarro, Mònica López-Guerra, Jordi Morata, Alex Bataller, Sara Paz, Josep Maria Cornet-Masana, Antònia Banús-Mulet, Laia Cuesta-Casanovas, Josep Maria Carbó, Sandra Castaño-Díez, Carlos Jiménez-Vicente, Albert Cortés-Bullich, Ana Triguero, Alexandra Martínez-Roca, Daniel Esteban, Marta Gómez-Hernando, José Ramón Álamo Moreno, Irene López-Oreja, Marta Garrote, Ruth Muñoz Risueño, Raul Tonda, Ivo G Gut, Dolors Colomer, Marina Díaz-Beya, Jordi Este |
| 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 |
| Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer. International journal of molecular sciences 2023 4 24 (7): . Savkova Alina, Gulyaeva Lyudmila, Gerasimov Aleksey, Krasil'nikov Serg |
| Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort. BJUI compass 2023 2 4 (2): 156-163. Mian Abrar, Wei Jun, Shi Zhuqing, Rifkin Andrew S, Zheng S Lilly, Glaser Alexander P, Kearns James T, Helfand Brian T, Xu Jianfe |
| 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 |
| 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 |
| The Impact of Li Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes and Genetic Testing Recommendations. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 . Josephine K Dermawan, David H Abramson, Sarah Chiang, Martee L Hensley, William D Tap, Sujana Movva, Robert G Maki, Diana Mandelker, Cristina R Antones |
| Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients. Cancers 2024 7 16 (14): . Ava Kwong, Cecilia Y S Ho, Chun-Hang Au, Edmond S K |
| 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 |
| Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing. Pathology, research and practice 2024 1 254 155075. Seref Bugra Tuncer, Betul Celik, Seda Kilic Erciyas, Ozge Sukruoglu Erdogan, Busra Kurt Gültaslar, Demet Akdeniz Odemis, Mukaddes Avsar, Fatma Sen, P?nar Mualla Saip, Hulya Yazi |
| Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population. JCO global oncology 2025 1 11 e2400065. Dione Aguilar, María L Garza-Rodríguez, Diana C Pérez-Ibave, Carolina E Muñiz-Garza, Victor Treviño, Cynthia M Villarreal-Garza, Oscar Vidal-Gutiérrez, Carlos H Burciaga-Flor |
| Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population. Breast cancer research : BCR 2025 1 27 (1): 7. Dione Aguilar, María Lourdes Garza-Rodríguez, Carolina Elizabeth Muñiz-Garza, Fernando Alcorta Nuñez, Cynthia Mayte Villarreal-Garza, Oscar Vidal-Gutiérrez, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flor |
- Page last reviewed:Feb 1, 2024
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