Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01
Variant appearance in text: MYBPC3: 187C>T; Arg63Trp
The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.
Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.
Nature Communications
Nones, Katia K; Waddell, Nicola N; Wayte, Nicci N; Patch, Ann-Marie AM; Bailey, Peter P; Newell, Felicity F; Holmes, Oliver O; Fink, J Lynn JL; Quinn, Michael C J MCJ; Tang, Yue Hang YH; Lampe, Guy G; Quek, Kelly K; Loffler, Kelly A KA; Manning, Suzanne S; Idrisoglu, Senel S; Miller, David D; Xu, Qinying Q; Waddell, Nick N; Wilson, Peter J PJ; Bruxner, Timothy J C TJC; Christ, Angelika N AN; Harliwong, Ivon I; Nourse, Craig C; Nourbakhsh, Ehsan E; Anderson, Matthew M; Kazakoff, Stephen S; Leonard, Conrad C; Wood, Scott S; Simpson, Peter T PT; Reid, Lynne E LE; Krause, Lutz L; Hussey, Damian J DJ; Watson, David I DI; Lord, Reginald V RV; Nancarrow, Derek D; Phillips, Wayne A WA; Gotley, David D; Smithers, B Mark BM; Whiteman, David C DC; Hayward, Nicholas K NK; Campbell, Peter J PJ; Pearson, John V JV; Grimmond, Sean M SM; Barbour, Andrew P AP