Table 2.
BRCA1 and BRCA2 mutations in women with breast cancer in Mexico City, Monterrey and Veracruz, 2007–2010
Case | Gene | Exon | Mutation | Codon Change | HGVS nomenclature | AGE | STAGE | HISTOLOGY | FAM HX BR CA |
---|---|---|---|---|---|---|---|---|---|
D2062 | BRCA1 | 9–12 | del | 14.7kb deletion | c.548?_4185 ?del | 44 | Missing | Ductal | Yes |
D2073 | BRCA1 | 9–12 | del | 14.7kb deletion | c.548?_4185 ?del | 35 | Missing | Ductal | No |
M1209 | BRCA1 | 9–12 | del | 14.7kb deletion | c.548?_4185 ?del | 43 | II | Ductal | No |
M1761 | BRCA1 | 9–12 | del | 14.7kb deletion | c.548?_4185 ?del | 46 | III | Ductal | No |
M1916 | BRCA1 | 9–12 | del | 14.7kb deletion | c.548?_4185 ?del | 43 | III | Ductal | No |
M1954 | BRCA1 | 9–12 | del | 14.7kb deletion | c.548?_4185 ?del | 44 | I | Ductal | Yes |
V3044 | BRCA1 | 9–12 | del | 14.7kb deletion | c.548?_4185 ?del | 56 | I | Ductal | Yes |
V3236 | BRCA1 | 9–12 | del | 14.7kb deletion | c.548?_4185 ?del | 37 | Missing | Missing | No |
D2309 | BRCA1 | 11 | 1135insA | Stop 345 | c.1016–1017insA | 41 | Missing | Medullary | No |
M1956 | BRCA1 | 11 | 2190delA | Stop 700 | c.2071-2071delA | 51 | II | Ductal | No |
M2255 | BRCA1 | 11 | 2415delAG | Stop 766 | c.2296–2297delAG | 34 | II | Ductal | No |
D2058 | BRCA1 | 11 | 2552delC | Stop 814 | c.2433delC | 50 | Missing | Not classified | No |
D2142 | BRCA1 | 11 | 2552delC | Stop 814 | c.2433delC | 38 | I | Ductal | No |
M2273 | BRCA1 | 11 | C3717T | Q1200X | c.3598C>T | 39 | Missing | Ductal | No |
M1607 | BRCA1 | 13 | C4446T | R1443X | c.4327C>T | 50 | II | Ductal | No |
V3053 | BRCA1 | 13 | C4446T | R1443X | c.4327C>T | 38 | I | Ductal | No |
D2090 | BRCA1 | 18 | C5242A | A1708E | c.5123C>A | 42 | Missing | Ductal | No |
D2377 | BRCA1 | 18 | C5242A | A1708E | c.5123C>A | 39 | I | Medullary | No |
M1738 | BRCA1 | 18 | C5242A | A1708E | c.5123C>A | 70 | II | Not classified | No |
M1895 | BRCA1 | 18 | C5242A | A1708E | c.5123C>A | 49 | III | Ductal | No |
V3267 | BRCA2 | 10 | 2024del5 | Stop 599 | c.1796–1800delTTTAT | 53 | III | Ductal | No |
V3319 | BRCA2 | 10 | 2024del5 | Stop 599 | c.1796–1800delTTTAT | 39 | II | Ductal | No |
V3054 | BRCA2 | 10 | 2024del5 | Stop 599 | c.1796–1800delTTTAT | 54 | II | Lobular | No |
V3054 | BRCA2 | 11 | 4321insAA | N/A | N/A | 54 | II | Lobular | No |
M1768 | BRCA2 | 11 | 2971del5 | N/A | N/A | 45 | III | Ductal | No |
M2251 | BRCA2 | 11 | 3036del4 | Stop 959 | c.2808–2811delACAA | 48 | Missing | Ductal | Yes |
M1193 | BRCA2 | 11 | 3492insT | Stop 1098 | c.3264–3265insT | 63 | II | Not classified | No |
D2379 | BRCA2 | 11 | 4534delAT | N/A | N/A | 51 | III | Lobular | No |
M1911 | BRCA2 | 11 | 5770delA | Stop 1862 | c.5542delA | 42 | III | Ductal | Yes |
M1831 | BRCA2 | 11 | 5859delC | N/A | N/A | 56 | II | Ductal | No |
V3269 | BRCA2 | 11 | 6686delC | P2153L | N/A | 43 | III | Ductal | No |
M1894 | BRCA2 | 11 | 6714delACAA | Stop 2166 | c.6486–6489delACAA | 56 | III | Ductal | No |
M1349 | BRCA2 | 11 | C4339T | Q1371X | c.4111C>T | 39 | III | Ductal | No |
M1751 | BRCA2 | 11 | C4339T | Q1371X | c.4111C>T | 75 | II | Lobular | No |
V3220 | BRCA2 | 11 | C4339T | Q1371X | c.4111C>T | 52 | Missing | Ductal | No |
Abbreviations: HGVS= Human Genome Variation Society; FAM HX BR CA= family history of breast cancer