The emerging clinical relevance of genomic profiling in neuroendocrine tumours

BMC Cancer

Table 2 Distribution of the actionable variants which all are in confidentiality rates according to the literature and our previous clinical validation studies [11,12,13]

	Patient	Anatomic location	Gene	Variant (amino acid change)	Allel frequency (%)
Liquid Biopsy	P2	Pancreas	RET	D698fs*71	0.65
	P2	Pancreas	RET	N950fs*9	0.54
	P3	Pancreas	RET	N950fs*9	1.63
	P3	Pancreas	RET	L19del	1.48
FFPE tissue	P4	Other	PDGFRA	T463S	49
	P5	Other	RET	L390G	0.94
	P5	Other	SDHA	G112fs*49	0.72
	P9	Other	SDHA	K541*	5.8
				R465Q	14
				S456L	28

F Female, M Male
* symbol were used to indicate stop codon formation as recommended in HUGO Gene Nomenclature Committee standards

ISSN: 1471-2407