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: EGFR: L703F; rs1273890779
A Nationwide Study on the Impact of Routine Testing for EGFR Mutations in Advanced NSCLC Reveals Distinct Survival Patterns Based on EGFR Mutation Subclasses.
Cancers
Koopman, Bart B; Cajiao Garcia, Betzabel N BN; Kuijpers, Chantal C H J CCHJ; Damhuis, Ronald A M RAM; van der Wekken, Anthonie J AJ; Groen, Harry J M HJM; Schuuring, Ed E; Willems, Stefan M SM; van Kempen, Léon C LC
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
DNA-Mutation Inventory to Refine and Enhance Cancer Treatment (DIRECT): a catalog of clinically relevant cancer mutations to enable genome-directed anticancer therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Yeh, Paul P; Chen, Heidi H; Andrews, Jenny J; Naser, Riyad R; Pao, William W; Horn, Leora L
'Classical' but not 'other' mutations of EGFR kinase domain are associated with clinical outcome in gefitinib-treated patients with non-small cell lung cancer.
British Journal Of Cancer
Pallis, A G AG; Voutsina, A A; Kalikaki, Ar A; Souglakos, J J; Briasoulis, E E; Murray, S S; Koutsopoulos, A A; Tripaki, M M; Stathopoulos, E E; Mavroudis, D D; Georgoulias, V V