Table 2. Somatic mutations detected by SNaPshot genotyping of primary tumours
Tumour typeTotal no. of casesMutations (no. of cases)
Breast33KRAS G12V + PIK3CA E545K (1)a
PIK3CA H1047L (1)
PIK3CA H1047R (2)
TP53 R175H (1)
TP53 R248Q (1)
Chronic myeloproliferative disorder10JAK2 V617F (4)
Colorectal30APC R1114X (1)
BRAF V600E (1)
KRAS G12C (1)
KRAS G12D (2)
KRAS G12S (1)
KRAS G12V (2)
KRAS G12V + PIK3CA E545K (1)
KRAS G13D (1)
KRAS G13D + PIK3CA R88Q (1)a
KRAS G13D + TP53 R273H (1)a
NRAS G12D (2)a
NRAS Q61H + TP53 R175H (1)a
PI3KCA E545K (1)
TP53 R175H (1)
Lung87CTNNB1 S37F + EGFR E746_A750del (1)a
EGFR E746_A750del (6)
EGFR E746_A750del + EGFR T790M + TP53 R175H (1)a
EGFR L858R (4)
EGFR L858R + EGFR T790M (1)
KRAS G12A (2)
KRAS G12C (10)
KRAS G12D (1)
KRAS G12D + TP53 R248Q (1)a
KRAS G12V (3)
KRAS G13D (1)
NRAS Q61L + TP53 R248P (1)a
PIK3CA E542K (1)
TP53 R248Q (1)
TP53 R273L (1)
Melanoma11BRAF V600E (4)
BRAF V600M (1)
NRAS Q61L (1)
NRAS Q61R (1)
Pancreatic23KRAS G12D (2)
KRAS G12D + TP53 R175H (1)a
KRAS G12R (2)
KRAS G12V (5)
KRAS G12V + TP53 R248Q (1)a
Prostate20CTNNB1 S33C (1)
CTNNB1 S37Y + PIK3CA E542K (1)a
KRAS G13R (1)a
Other36BRAF V600E (1)a, unknown primary, presumed breast
KRAS G12D (1), cervical
TP53 R306X (1)a, thyroid Hurthle cell carcinoma
  • a Mutations or combination of mutations that are rare or not‐previously described in the corresponding tumour type.