Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: NOTCH1: R2272H; rs972658026
Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.
Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04
Variant appearance in text: NOTCH1: R2272H; rs972658026
Blood-Based Surveillance Monitoring of Circulating Tumor DNA From Patients With SCLC Detects Disease Relapse and Predicts Death in Patients With Limited-Stage Disease.
Jto Clinical And Research Reports
Iams, Wade T WT; Kopparapu, Prasad R PR; Yan, Yingjun Y; Muterspaugh, Anel A; Zhao, Zhiguo Z; Chen, Heidi H; Cann, Christopher C; York, Sally S; Horn, Leora L; Ancell, Kristin K; Wyman, Kenneth K; Bertucci, Caterina C; Shaffer, Tristan T; Hodsdon, Lauren A LA; Garg, Kavita K; Hosseini, Seyed Ali SA; Lim, Lee P LP; Lovly, Christine M CM
The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Basturk, Olca O; Tan, Marcus M; Bhanot, Umesh U; Allen, Peter P; Adsay, Volkan V; Scott, Sasinya N SN; Shah, Ronak R; Berger, Michael F MF; Askan, Gokce G; Dikoglu, Esra E; Jobanputra, Vaidehi V; Wrzeszczynski, Kazimierz O KO; Sigel, Carlie C; Iacobuzio-Donahue, Christine C; Klimstra, David S DS