Submissions for variant NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup)

dbSNP: rs397517109

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150613	SCV000197904	drug response	Tyrosine kinase inhibitor response	2012-06-01	criteria provided, single submitter	clinical testing	Ser768_Asp770dup has been reported in the literature in at least four individuals that have been treated with an EGFR tyrosine kinase inhibitor (gefitinib; Wu 2008). Three of these individuals exhibited progressive disease and one individual exhibited partial response as the maximal response. Insertions in exon 20 of EGFR such as this have been associated with resistance to EGFR tyrosine kinase inhibitors in vitro (Greulich 2005).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038409	SCV000062081	likely pathogenic	Non-small cell lung carcinoma	2006-10-28	no assertion criteria provided	clinical testing
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University	RCV003996406	SCV004042714	likely pathogenic	Lung adenocarcinoma		no assertion criteria provided	clinical testing