Table 1 Distribution of genotypes in the ten SNPs determined in BRCA1 mutation carriers with breast or ovarian cancer before 40 years of age (young cancer) and in carriers not having had breast or ovarian cancer before 60 years of age (old no cancer), and with calculated RR and OR, and HR/OR from previous reports [according to references given in left column]
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 |