Table 3.
Deleterious mutations and genetic variants of uncertain significance detected in BRCA1
| BRCA1: Deleterious mutations | No. detected | Subgroup assigned | dbSNP ID | (Breast Cancer Information Core [BIC] mutation database) | ||||
|---|---|---|---|---|---|---|---|---|
| Exon | Designation | BIC designation | Type | No. reported | Ethnicity | |||
| 5 | L63X(c.188T > A) | 5 | II‐2, II‐6, IV‐3, V‐5, III‐1 | NR | L63X | N | 6 | Asian: 5 |
| 5 | c.190_193delTGTA | 1 | I‐2 | NR | (309del4) ‡ | F | 0 | |
| 7 | Y130X(c.390C > A) | 1 | II‐7 | NR | Y130X | N | 1 | Asian: 1 |
| 11 | c.1112delC | 1 | II‐2 | NR | (1231delC) | F | 0 | |
| 11 | K503X(c.1507 A > G) | 1 | IV‐2 | NR | (K503X) | N | 0 | |
| 11 | E908X(c.2722G > T) | 1 | II‐5 | NR | E908X | N | 58 | Asian: 0 |
| 11 | Q934X(c.2800C > T) | 1 | IV‐5 | NR | Q934X | N | 4 | Asian: 2 |
| 11 | c.3442delG | 1 | II‐2 | NR | 3561delG | F | 2 | Asian: 2 |
| 11 | c.3505_3509delGACAT | 1 | IV‐3 | NR | (3624del5) | F | 0 | |
| 11 | c.4041_4042delAG | 1 | I‐2 | NR | 4160delAG | F | 7 | Asian: 0 |
| 13 | IVS13 + 1G > T † | 1 | II‐5 | NR | IVS13 +1G > T | S | 1 | NR |
| 13 | R1443X(c.4327C > T) | 1 | IV‐3 | NR | R1443X | N | 126 | Asian: 1 |
| 24 | c.5533_5534insT | 1 | II‐2 | NR | (5652insT) | F | 0 | |
| BRCA1: Genetic variant of uncertain significance | (BIC Mutation Database) | |||||||
|---|---|---|---|---|---|---|---|---|
| Exon | Designation | No. detected | Subgroup assigned | dbSNP ID | BIC Designation | Type | No. reported | Ethnicity |
| 5 | L52F(c.154C > T) | 1 | II‐1 | NR | L52F | M | 5 | Asian: 2 |
| 10 | P209L(c.626C > T) | 1 | II‐1 | NR | (P209L) | M | 0 | |
| 11 | S1217P(c.3649T > C) | 1 | II‐1 | NR | (S1217P) | M | 0 | |
| 16 | S1577P(c.4729T > C) | 3 | I‐2, II‐2, II‐5 | NR | S1577P | M | 1 | Asian: 1 |
| 20 | R1753T(c.5258G > C) | 1 | II‐3 | NR | (R1753T) | M | 0 | |
| 21 | F1761S(c.5282T > C) | 1 | II‐2 | NR | F1761S | M | 1 | Asian: 0 |
| 24 | Y1853C(c.5558 A > G) | 1 | II‐5 | NR | Y1853C | M | 1 | Asian: 0 |
†
Mutation in the donor site of intron 13, suspected to be deleterious, resulting in a splicing error.
‡
‡ Mutations in parentheses indicate mutational types of unreported cases represented according to the style of BIC nomenclature. F, frameshift mutation; M, missense mutation; N, nonsense mutation; NR, not reported; P, genetic polymorphism; S, splice site mutation; Syn, synonymous mutation.