Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 73 Records) |
Query Trace: Syndrome and ATM[original query] |
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The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers. Archives of medical science : AMS 2021 9 17 (5): 1158-1163. Podralska Marta, Dzikiewicz-Krawczyk Agnieszka, Mosor Maria, ?urawek Magdalena, I?ykowska Katarzyna, S?omski Ryszard, Rydzanicz Ma?gorzata, Gabryel Piotr, Dyszkiewicz Wojciech, Zió?kowska-Suchanek Iwo |
Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. Journal of personalized medicine 2021 8 11 (7): . Slater Emily P, Wilke Lisa M, Böhm Lutz Benedikt, Strauch Konstantin, Lutz Manuel, Gercke Norman, Matthäi Elvira, Hemminki Kari, Försti Asta, Schlesner Matthias, Paramasivam Nagarajan, Bartsch Detlef |
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 |
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. Frontiers in oncology 2021 11 649435. Doddato Gabriella, Valentino Floriana, Giliberti Annarita, Papa Filomena Tiziana, Tita Rossella, Bruno Lucia Pia, Resciniti Sara, Fallerini Chiara, Benetti Elisa, Palmieri Maria, Mencarelli Maria Antonietta, Fabbiani Alessandra, Bruttini Mirella, Orrico Alfredo, Baldassarri Margherita, Fava Francesca, Lopergolo Diego, Lo Rizzo Caterina, Lamacchia Vittoria, Mannucci Sara, Pinto Anna Maria, Curr Aurora, Mancini Virginia, , , Mari Francesca, Renieri Alessandra, Ariani Frances |
Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer. Clinical breast cancer 2021 5 21 (6): e647-e653. Ece Solmaz Asl?, Yeniay Levent, Gökmen Erhan, Zekio?lu Osman, Haydaro?lu Ayfer, Bilgen I??l, Özk?nay Ferda, Onay Hüsey |
Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample. Cancer science 2021 1 112 (3): 1310-1319. Yoshida Reiko, Hagio Taichi, Kaneyasu Tomoko, Gotoh Osamu, Osako Tomo, Tanaka Norio, Amino Sayuri, Yaguchi Noriko, Nakashima Eri, Kitagawa Dai, Ueno Takayuki, Ohno Shinji, Nakajima Takeshi, Nakamura Seigo, Miki Yoshio, Hirota Toru, Takahashi Shunji, Matsuura Masaaki, Noda Tetsuo, Mori Seiic |
Predicted Chemotherapy Benefit for Breast Cancer Patients With Germline Pathogenic Variants in Cancer Susceptibility Genes. JNCI cancer spectrum 2021 1 5 (1): . Kurian Allison W, Ward Kevin C, Abrahamse Paul, Hamilton Ann S, Katz Steven |
Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome. Cancers 2022 9 14 (17): . Dos Santos Wellington, de Andrade Edilene Santos, Garcia Felipe Antonio de Oliveira, Campacci Natália, Sábato Cristina da Silva, Melendez Matias Eliseo, Reis Rui Manuel, Galvão Henrique de Campos Reis, Palmero Edenir In |
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 |
Clonally unrelated Richter syndrome are truly de novo diffuse large B-cell lymphomas with a mutational profile reminiscent of clonally related Richter syndrome. British journal of haematology 2022 7 198 (6): 1016-1022. Favini Chiara, Talotta Donatella, Almasri Mohammad, Andorno Annalisa, Rasi Silvia, Adhinaveni Ramesh, Kogila Sreekar, Awikeh Bassel, Schipani Mattia, Boggione Paola, Mouhssine Samir, Ghanej Joseph, Al Essa Wael, Mahmoud Abdurraouf Mokhtar, Dondolin Riccardo, Alessa Nariman, Margiotta Casaluci Gloria, Boldorini Renzo, Gattei Valter, Gaidano Gianluca, Moia Riccar |
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome. Frontiers in oncology 2022 4 12 774202. Guan Bao, Wang Jie, Li Xuesong, Lin Lin, Fang Dong, Kong Wenwen, Tian Chuangyu, Li Juan, Yang Kunlin, Han Guanpeng, Wu Yucai, He Yuhui, Peng Yiji, Yu Yanfei, He Qun, He Shiming, Gong Yanqing, Zhou Liqun, Tang |
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India. Scientific reports 2022 3 12 (1): 4036. Rawat Amit, Tyagi Rahul, Chaudhary Himanshi, Pandiarajan Vignesh, Jindal Ankur Kumar, Suri Deepti, Gupta Anju, Sharma Madhubala, Arora Kanika, Bal Amanjit, Madaan Priyanka, Saini Lokesh, Sahu Jitendra Kumar, Ogura Yumi, Kato Tamaki, Imai Kohsuke, Nonoyama Shigeaki, Singh Surj |
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 |
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 |
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 |
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 |
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 |
Genomic profiles of renal cell carcinoma in a small Chinese cohort. Frontiers in oncology 2023 7 13 1095775. Sheng Tai, Dan-Dan Xu, Zhixian Yu, Yu Guan, Shuiping Yin, Jun Xiao, Song Xue, Chaozhao Lia |
Somatic and Germline Variants Affect Prognosis and Susceptibility in Prostate Cancer. Anticancer research 2023 6 43 (7): 2941-2949. Christian Rocca, Giulia Rocca, Pietro Zampieri, Lucio Dell'atti, Nicoletta Bianchi, Carmelo Ippolito, Gianluca Aguia |
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 genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
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 |
Germline Variants in MLH1 and ATM Genes in a Young Patient with MSI-H in a Precancerous Colonic Lesion. International journal of molecular sciences 2023 3 24 (6): . Nolano Antonio, Rossi Giovanni Battista, D'Angelo Valentina, Liccardo Raffaella, Rosa Marina De, Izzo Paola, Duraturo Frances |
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 |
Cancer predisposition signaling in Beckwith-Wiedemann Syndrome drives Wilms tumor development. British journal of cancer 2023 12 . Snehal Nirgude, Natali S Sobel Naveh, Sanam L Kavari, Emily M Traxler, Jennifer M Kali |
Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia. Advances in laboratory medicine 2023 12 4 (3): 279-287. Laura Rosado-Jiménez, Younes Mestre-Terkemani, Ángeles García-Aliaga, Miguel Marín-Vera, José Antonio Macías-Cerrolaza, María Desamparados Sarabia-Meseguer, María Rosario García-Hernández, Marta Zafra-Poves, Pilar Sánchez-Henarejos, Francisco Ayala de la Peña, José Luis Alonso-Romero, José Antonio Noguera-Velasco, Francisco Ruiz-Espe |
[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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 25, 2024
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