From: Ten modifiers of BRCA1 penetrance validated in a Norwegian series
SNP | Genotype | Young cancer (number of cases) | Old no cancer (number of cases) | Reported risk | ObservedRR (95 % CI) | ObservedOR (95 % CI) | Fishers’ exact p – one sided |
---|---|---|---|---|---|---|---|
rs13387042 2q35 [4] | GG | 13 | 18 | 1 | - | ||
AA | 9 | 9 | HR 1.05 | 1.19 (0.64–2.22) | 1.38 (0.43–4.45) | 0.40 | |
GA | 17 | 11 | HR 1.14 | 1.45 (0.87–2.41) | 2.14 (0.76–6.06) | 0.12 | |
AA or GA | 26 | 20 | 1.35 (0.83–2.19) | 1.80 (0.72–4.52) | 0.15 | ||
rs3803662 16q12 TOX3, LOC643714 [5] | CC | 18 | 26 | 1 | - | ||
TT | 1 | 2 | HR 1.24 | 0.81 (0.16–4.20) | 0.72 (0.06–8.58) | 0.65 | |
CT | 20 | 10 | HR 1.11 | 1.63 (1.05–2.52) | 2.89 (1.10–7.61) | 0.03* | |
TT or CT | 21 | 12 | 1.56 (1.00–2.41) | 2.53 (1.00–6.40) | 0.04* | ||
rs8170 19p13 [6] | GG | 29 | 27 | 1 | - | ||
AA | 0 | 1 | HR 1.35 | - | - | - | |
GA | 11 | 10 | HR 1.22 | 1.01 (0.63–1.63) | 1.02 (0.38–2.80) | 0.58 | |
AA or GA | 11 | 11 | 0.97 (0.59–1.57) | 0.93 (0.35–2.50) | 0.65 | ||
rs9397435 6q25 ESR1 [7] | AA | 32 | 34 | 1 | - | ||
GG | 1 | 0 | HR 1.37 | 2.06 (1.61–2.64) | - | - | |
AG | 7 | 4 | HR 1.31 | 1.31 (0.79–2.19) | 1.86 (0.50–6.96) | 0.27 | |
GG or AG | 8 | 4 | 1.38 (0.86–2.20) | 2.13 (0.58–7.75) | 0.20 | ||
rs700518 CYP19 [8] | AA | 12 | 14 | 1 | - | ||
GG | 16 | 6 | OR 2.81 | 1.58 (0.97–2.57) | 3.11 (0.92–10.48) | 0.06 | |
AG | 11 | 17 | OR 1.41 | 0.85 (0.46–1.58) | 0.75 (0.26–2.23) | 0.41 | |
GG or AG | 27 | 23 | 1.17 (0.72–1.91) | 1.37 (0.53–3.54) | 0.34 | ||
rs10046 CYP19 [9] | CC | 11 | 15 | 1 | - | ||
TT | 17 | 7 | OR 1.37 | 1.67 (1.00–2.81) | 3.31 (1.02–10.72) | 0.04* | |
TC | 12 | 15 | OR 1.26 | 1.05 (0.57–1.94) | 1.09 (0.37–3.23) | 0.55 | |
TT or TC | 29 | 22 | 0R 1.29 | 1.34 (0.81–2.23) | 1.80 (0.69–4.67) | 0.17 | |
rs3834129 CASP 8 [10] | nor/nor | 8 | 9 | 1 | - | ||
del/del | 12 | 6 | HR 1.60 | 1.42 (0.78–2.58) | 2.25 (0.57–8.82) | 0.20 | |
nor/del | 19 | 23 | HR 1.83 | 0.96 (0.53–1.76) | 0.93 (0.30–2.88) | 0.56 | |
del/del or nor/del | 31 | 29 | 1.10 (0.63–1.92) | 1.20 (0.41–3.54) | 0.48 | ||
rs1045485 CASP 8 [11] | GG | 33 | 25 | 1 | - | ||
CC | 1 | 6 | HR 0.86 | 0.25 (0.04–1.56) | 0.13 (0.01–1.12) | 0.04* | |
GC | 5 | 5 | HR 0.83 | 0.88 (0.45–1.70) | 0.76 (0.20─2.91) | 0.47 | |
CC or GC | 6 | 11 | 0.62 (0.31─1.23) | 0.41 (0.13─1.27) | 0.10 | ||
rs2363956 9p13 ABHD8, ANKLE1, C19orf62 [12] | AA | 15 | 5 | 1 | - | ||
CC | 7 | 13 | HR 0.7 | 0.47 (0.24–0.89) | 0.18 (0.05–0.70) | 0.01* | |
AC | 18 | 19 | HR 0.89 | 0.65 (0.43–0.98) | 0.32 (0.10–1.05) | 0.05* | |
CC or AC | 25 | 32 | 0.58 (0.40–0.86) | 0.26 (0.08–0.81) | 0.02* | ||
rs16942 BRCA1 [13] | TT | 20 | 23 | 1 | - | ||
CC | 5 | 9 | HR 0.85 | 0.77 (0.35–1.66) | 0.64 (0.18–2.22) | 0.35 | |
TC | 15 | 6 | 1.54 (1.01–2.34) | 2.88 (0.94–8.82) | 0.05* | ||
CC or TC | 20 | 15 | 1.23 (0.80–1.89) | 1.53 (0.62–3.77) | 0.24 |