Gene | HGVS1
| traditional2
| protein | # fam3
| LR per family4
| LR-variant5
|
|---|
BRCA1
| c.53T>C | 172T>C | p.M18T | 2 | 5.7004(2+) | 7.9777 |
| | | | | | 1.3995(4+; 6+; 3-) | |
BRCA1
| c.4964C>T | 5083C>T | p.S1655F | 1 | 6.7425(3+; 2+) | 6.7425 |
BRCA1
| c.5096G>A | 5215G>A | p.R1699Q | 1 | 1.4280(2+) | 1.4280 |
BRCA2
| c.1385A>G | 1613A>G | p.E462G | 4 | 0.7738(1+; 1+) | 0.0965 |
| | | | | | 0.6757(1+; 1+) | |
| | | | | | 1.2459(1+; 1-) | |
| | | | | | 0.1481(1+; 1-) | |
BRCA2
| c.7978T>G | 8206T>G | p.Y2660D | 3 | 1.8579(2+), | 230.6927 |
| | | | | | 11.1565(2+) | |
| | | | | | 11.1297(2+; 3+) | |
BRCA2
| c.8351C>T | 8579G>A | p.R2784Q | 1 | 1.8101(1+; 1+) | 1.8101 |
BRCA2
| c.9154C>T | 9382C>T | p.R3052W | 2 | 3.0651(2+), | 12.1960 |
| | | | | | 3.9790(3+) | |
BRCA2
| c.9155G>A | 9383G>A | p.R3052Q | 1 | 0.2208(1+; 1-) | 0.2208 |
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1The Human Genetic Variation Society (HGVS) approved guidelines http://www.hgvs.org/mutnomen have been used for BRCA1 and BRCA2 nomenclature [12].
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2To facilitate published data comparison, also the traditional nomenclature is listed (Breast Cancer Information Core, http://research.nhgri.nih.gov/bic/). GenBank accession no. NM_007294.2/NP_009226.1 and NM_000059.3/NP_000050.1 have been used for BRCA1 and BRCA2 mRNA and protein numbering respectively.
-
3Number of families with at least two genotyped family members.
-
4Likelihood ratio per family. Between brackets the number of affected individuals carrying the UV (n+) or unaffected individuals with the UV (n+), affected individuals without the UV (n-) or unaffected individuals without the UV (n-).
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5The overall likelihood ratio is derived by the product of the LR over the independent families.
