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: ERBB2: R1153Q; rs758365405
Genomic profile of advanced breast cancer in circulating tumour DNA.
Nature Communications
Kingston, Belinda B; Cutts, Rosalind J RJ; Bye, Hannah H; Beaney, Matthew M; Walsh-Crestani, Giselle G; Hrebien, Sarah S; Swift, Claire C; Kilburn, Lucy S LS; Kernaghan, Sarah S; Moretti, Laura L; Wilkinson, Katie K; Wardley, Andrew M AM; Macpherson, Iain R IR; Baird, Richard D RD; Roylance, Rebecca R; Reis-Filho, Jorge S JS; Hubank, Michael M; Faull, Iris I; Banks, Kimberly C KC; Lanman, Richard B RB; Garcia-Murillas, Isaac I; Bliss, Judith M JM; Ring, Alistair A; Turner, Nicholas C NC
Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial.
Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Lesurf, R R; Griffith, O L OL; Griffith, M M; Hundal, J J; Trani, L L; Watson, M A MA; Aft, R R; Ellis, M J MJ; Ota, D D; Suman, V J VJ; Meric-Bernstam, F F; Leitch, A M AM; Boughey, J C JC; Unzeitig, G G; Buzdar, A U AU; Hunt, K K KK; Mardis, E R ER