Table 3 BRCA1 gene mutation and VUS identified in our cohort
From: BRCA mutation screening and patterns among high-risk Lebanese subjects
| Nucleotide Change | AA Change | Nomenclature Protein | Number of families with history of mutation |
|---|---|---|---|
| Deleterious | |||
| c.131G > T | p.Cys44Phe | C44F | 7 |
| c.3436_3439delTGTT | p.Cys1146Leufs | 3555del4 | 5 |
| c.2158G > T | p.Glu720Ter | E720X | 3 |
| c.3679C > T | p.Gln1227Ter | Q1227X | 1 |
| c.679G > T | p.Glu227Ter | E227X | 2 |
| c.3381 T > G | p.Tyr1127Ter | Y1127X | 3 |
| c.4096 + 1G > A | IVS11 + 1G > A | 1 | |
| c.1039_1040delCT | p.Leu347Valfs | 1158_1159delCT | 1 |
| VUS | |||
| c.536A > G | p.Tyr179Cys | Y179C | |
| c.1456 T > C | p.Phe486Leu | F486 L | 4 |
| c.1648A > C | p.Asn550His | N550H | |
| c.804C > G | p.Asn268Lys | N268K | 2 |
| c.3526G > A | p.Val1176Ile | V1176I | 1 |
| c.107C > A | p.Ser36Tyr | S36Y | 1 |
| c.4132G > A | p.Val1378Ile | V1378I | 2 |
| c.3956G > T | p.Gly1319Val | G1319 V | 1 |
| c.2617 T > C | p.Ser873Pro | S873P | 1 |
| c.488G > C | p.Arg163Thr | R163T | 1 |
| c.346G > A | p.Glu116Lys | E116K | 1 |
| c.1717_1717delT | p.Ser573HisFsX | 1863delT | 1 |