Clinical detection and categorization of uncommon and concomitant mutations involving BRAF

BMC Cancer

Table 4 Concomitant BRAF mutations with AKT or PIK3CA mutations in the mTOR pathway

Kinase activity	Diagnosis	BRAF ^a	AKT ^b /PIK3CA ^c
Activated
Case M1	lung cancer	V600E (13 %)	AKT/E17K (13 %)
Case M2	lung cancer	V600E (24 %)	AKT/E17K (30 %)
Case M3	lung cancer	V600E (6.2 %)	PIK3CA/R88Q (5.7 %)
Case M4	colorectal cancer	V600E (24 %)	PIK3CA/E545K (29 %)
Case M5	colorectal cancer	V600E (19 %)	PIK3CA/H1047Q (25 %)
Case M6	colorectal cancer	V600E (42 %)	PIK3CA/H1047R (39 %)
Impaired
Case M7	melanoma	D594N (59 %)	PIK3CA/L327F (19 %)
Unknown
Case M8^d	melanoma	S467L (26 %)	PIK3CA/P57S (23 %)
Case M9	colorectal cancer	N581S (30 %)	PIK3CA/K111E (32 %)
Case M10	lung cancer	E611Q (18 %)	PIK3CA/D350N (13 %)

Percentage in the parenthesis indicates mutant allele frequency
^aNucleotide changes of BRAF mutations were shown in Table 2
^bE17K: c.49G > A
^cP57S: c.169C > T; p.R88Q (c.263G > A); p.K111E (c.331A > G); L327F: c.979C > T; D350N: c.1048G > T; p.E545K: c.1633G > A; p.H1047Q (c.3141 T > G); p.H1047R: c.3140A > G
^dsame case as P8 with BRAF, NRAS and PIK3CA mutations in Table 3

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