Table 3 |
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|
Likelihood ratio in favor of causality for selected neutral variants |
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|
Gene |
HGVS1 |
traditional2 |
protein |
# fam3 |
LR per family4 |
LR-variant5 |
|
|
||||||
|
BRCA1 |
c.135-15_135-12del6 |
IVS4-15delCTTT |
p.= |
19 |
3.8592 (2+) |
3.8592 |
|
BRCA1 |
c.2613G>A7 |
2732G>A |
p.Pro871Pro |
1 |
1.8533(2+) |
1.8533 |
|
BRCA1 |
c.5152+20T>A7 |
IVS18+20T>A |
p.= |
1 |
3.6711(1+; 1+) |
3.6711 |
|
BRCA2 |
c.125A>G8 |
353A>G |
p.Y42C |
2 |
0.9728(2+) |
0.7405 |
|
0.7612(1+; 4+) |
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|
|
||||||
|
1–5 For clarification see Table 1. These variants are regarded to be neutral towards cancer risk based on 6Vreeswijk et al. [15], 7Splice site prediction analysis and 8Goldgar et al. [3]. 9 Pedigree is shown in Additional file 1; Figure S4. |
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|
Mohammadi et al. BMC Cancer 2009 9:211 doi:10.1186/1471-2407-9-211 |
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