Table 3.
Nucleotide and amino acid substitutions identified in probands from 192 high-risk breast cancer families
| Site | * Nucleotide change | * Amino acid change | Number of probands (n) | Predictive algorithms
|
||
|---|---|---|---|---|---|---|
| SIFT | PolyPhen | Pmut | ||||
| Exon 2 | c. 376G>A | p.Ala126Thr | 2# | Tolerated | Benign | Neutral |
| Exon 3 | c.506T>C | p.Val169Ala | 1# | Tolerated | Benign | Neutral |
| Exon 6 | c.859A>G | p.Thr287Ala | 2#,$ | Tolerated | Damaging | Neutral |
| Exon 9 | c.1090A>G | p.Ser364Gly | 1# | Tolerated | Benign | Neutral |
*
HGVS nomenclature;
#
probands from cohort of 146 families;
$
proband from cohort of 46 families.