Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: RB1: 920C>T; Thr307Ile; rs183898408
Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.
Journal Of Personalized Medicine
Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R
Publication Date: 2020-09-21
Variant appearance in text: RB1: T307I; rs183898408
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: RB1: 920C>T; T307I; rs183898408
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Genome Medicine
Kim, Jung J; Luo, Wen W; Wang, Mingyi M; Wegman-Ostrosky, Talia T; Frone, Megan N MN; Johnston, Jennifer J JJ; Nickerson, Michael L ML; Rotunno, Melissa M; Li, Shengchao A SA; Achatz, Maria I MI; Brodie, Seth A SA; Dean, Michael M; de Andrade, Kelvin C KC; Fortes, Fernanda P FP; Gianferante, Matthew M; Khincha, Payal P; McMaster, Mary L ML; McReynolds, Lisa J LJ; Pemov, Alexander A; Pinheiro, Maisa M; Santiago, Karina M KM; Alter, Blanche P BP; Caporaso, Neil E NE; Gadalla, Shahinaz M SM; Goldin, Lynn R LR; Greene, Mark H MH; Loud, Jennifer J; Yang, Xiaohong R XR; Freedman, Neal D ND; Gapstur, Susan M SM; Gaudet, Mia M MM; Calista, Donato D; Ghiorzo, Paola P; Fargnoli, Maria Concetta MC; Nagore, Eduardo E; Peris, Ketty K; Puig, Susana S; Landi, Maria Teresa MT; Hicks, Belynda B; Zhu, Bin B; Liu, Jia J; Sampson, Joshua N JN; Chanock, Stephen J SJ; Mirabello, Lisa J LJ; Morton, Lindsay M LM; Biesecker, Leslie G LG; Tucker, Margaret A MA; Savage, Sharon A SA; Goldstein, Alisa M AM; Stewart, Douglas R DR
Publication Date: 2018-12-24
Variant appearance in text: RB1: 920C>T; Thr307Ile; rs183898408
Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.
Molecular Vision
Kalsoom, Saeeda S; Wasim, Muhammad M; Afzal, Sibtain S; Shahzad, Muhammad Saqib MS; Ramzan, Shaiqa S; Awan, Ali Raza AR; Anjum, Aftab Ahmed AA; Ramzan, Khushnooda K
Publication Date: 2015
Variant appearance in text: RB1: 920C>T; Thr307Ile; rs183898408
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: RB1: 920C>T; Thr307Ile; rs183898408
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: RB1: T307I; rs183898408
Kanber, Deniz D; Berulava, Tea T; Ammerpohl, Ole O; Mitter, Diana D; Richter, Julia J; Siebert, Reiner R; Horsthemke, Bernhard B; Lohmann, Dietmar D; Buiting, Karin K