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. Author manuscript; available in PMC: 2016 Mar 1.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2014 Nov 4;24(3):498–505. doi: 10.1158/1055-9965.EPI-13-0980

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