Table 1.

Genomic analysis using tissue and ctDNA samples.

Pt. ID	Collection date	Sample source	Genomic alterations	Panel, no. of clinically relevant genes
001	16 June 2015	Pelvic mass	TP53 V157F	Solid tumor genomic assay V2, 146 genes
			BRCA2 R3052W
	20 July 2017	Blood	BRCA2 R3052W	Guardant360, 73 genes
			NF1 splice site
			TP53 V157F
			GNAS R201H
002	21 July 2017	Blood	RAF1 amplification	Guardant360, 73 genes
	25 September 2017	Liver	None	Solid tumor genomic assay V1, 134 genes
	22 November 2019	Liver	BRAF V600dup	Tempus × T assay, 596 genes
			MYB-NFIB chromosomal rearrangement
			KMT2D Q2696 Stop gain – LOF
003	29 January 2015	Lung	ATM loss exons 57–63	FoundationOne, 315 genes
			NOTCH2 A3F
			ESR1 Y537S
			CCND1 amplification
			EMSY amplification
			FGF19 amplification
			FGF3 amplification
			FGF4 amplification
			MCL1 amplification - equivocal
	15 October 2018	Blood	ATM M3011T	Liquid biopsy panel, 70 genes
			BRCA1 Q356*
			ESR1 Y537S
			TP53 A159V
			TP53 P152L

ATM, ATM serine/threonine kinase; BRAF, rapidly accelerated fibrosarcoma homolog B; BRCA1, breast cancer type 1; BRCA2, breast cancer type 2; CCND1, Cyclin D1; EMSY, BRCA2 interacting transcriptional repressor; ESR1, estrogen receptor 1; FGF, fibroblast growth factor; GNAS, guanine nucleotide binding protein, alpha stimulating activity polypeptide; KMT2D, histone-lysine N-methyltransferase 2D; LOF, loss of function; MCL1, myeloid cell leukemia 1; MYB-NFIB, myeloblastosis virus oncogene – nuclear factor 1 B-type; NF1, neurofibromatosis type 1; NOTCH2, notch receptor 2; RAF1, rapidly accelerated fibrosarcoma 1; TP53, tumor protein p53.

Molecular alterations identified by ctDNA analysis and used to select matched therapy are presented in bold text.