Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population

Table 2

Distribution (, %) of baseline characteristics (at diagnosis) and frequency of AKT1 mutations in patients with all breast cancer subtypes.

	Luminal A		Luminal B		HER2-enriched		Basal-like		All		P value	FDR; Q value
		%		%		%		%		%
Age at diagnosis
<35	1	1.9	0	0.0	1	9.1	0	0.0	2	2.2	Reference
35-49	21	39.6	3	27.3	6	54.5	7	43.75	37	40.7	P > 0.05	Q > 0.05
≥50	31	58.5	8	72.7	4	36.4	9	56.25	52	57.1	P > 0.05	Q > 0.05
Affected breast
Right	31	58.5	8	72.7	5	45.5	8	50.0	52	57.1	P > 0.05	Q > 0.05
Left	22	41.5	3	27.3	6	54.5	8	50.0	39	42.9
T stage
T1-T2	41	77.36	6	54.5	8	72.7	15	93.75	70	76.92	Reference
T3-T4	9	16.98	5	45.5	3	27.3	1	6.25	18	19.78	P > 0.05	Q > 0.05
T0, X	3	5.66	0	0.0	0	0.0	0	0.00	3	3.30	P > 0.05	Q > 0.05
LN status
+	28	52.8	3	27.3	9	81.8	7	43.75	47	51.6	P > 0.05	Q > 0.05
-	25	47.2	8	72.7	2	18.2	9	56.25	44	48.4
ER status
+	49	92.5	10	90.9	0	0.0	0	0.0	59	64.8	P ≤ 0.001	Q ≤ 0.05
-	4	7.5	1	9.1	11	100	16	100	32	35.2
PR status
+	53	100	1	9.1	1	9.1	0	0.0	55	60.4	P ≤ 0.001	Q ≤ 0.05
-	0	0.0	10	90.9	10	90.9	16	100	36	39.6
HER2 status
+	11	20.8	5	45.5	11	100	0	0.0	27	29.7	P ≤ 0.001	Q ≤ 0.05
-	42	79.2	6	54.5	0	0.0	16	100	64	70.3
Surgical margins
+	33	62.3	8	72.7	7	63.6	13	81.25	61	67.0	P > 0.05	Q > 0.05
-	20	37.7	3	27.3	4	36.4	3	18.75	30	33.0
rs121434592 E17K
GG	52	98.1	11	100	11	100	15	93.75	89	97.8	Reference
GA	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	-	-
AA	1	1.9	0	0.0	0	0.0	1	6.25	2	2.2	P > 0.05	Q > 0.05
rs12881616 E319G
AA	53	100	11	100	11	100	16	100	91	100	Reference
AG	0	0.0	0	0.0	0	0.0	0.0	0.0	0	0.0	-	-
GG	0	0.0	0	0.0	0	0.0	0.0	0.0	0	0.0	-	-
rs11555432 L357P
TT	53	100	11	100	11	100	16	100	91	100	Reference
TC	0	0.0	0	0.0	0	0.0	0.0	0.0	0	0.0	-	-
CC	0	0.0	0	0.0	0	0.0	0.0	0.0	0	0.0	-	-
rs11555431 P388T
CC	53	100	11	100	11	100	16	100	91	100	Reference
CA	0	0.0	0	0.0	0	0.0	0.0	0.0	0	0.0	-	-
AA	0	0.0	0	0.0	0	0.0	0.0	0.0	0	0.0	-	-
rs2494732
CC	24	45.3	5	45.45	6	54.5	6	37.5	41	45.05	Reference
CT	24	45.3	4	36.36	1	9.1	8	50.0	37	40.66	P > 0.05	Q > 0.05
TT	5	9.4	2	18.18	4	36.4	2	12.5	13	14.29	P > 0.05	Q > 0.05
rs3803304
CC	31	58.5	4	36.4	4	36.4	15	93.8	54	59.3	Reference
CG	18	34.0	7	63.6	5	45.5	0	0.0	30	33.0	P ≤ 0.05	Q ≤ 0.05
GG	4	7.5	0	0.0	2	18.2	1	6.3	7	7.7	P > 0.05	Q > 0.05

LN, lymph node; ER, estrogen receptor; PR, progesterone receptor; HER, human epidermal growth factor receptor; FDR, false discovery rate.