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Table 2 BRCA1/2 mutations in ovarian cancer patients: clinical aspects and molecular description

From: Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil

ID HGVS cDNA HGVS protein BIC name Type Age Ancestry HT CS FH Reference
BRCA1
21 c.791_794delGTTC p.Ser264Metfs 910del4 F 50–59 BRZ S III NC [30]
18 c.961_962delTG p.(Trp321fs) ND F 50–59 BRZ S III - Current Study
49 c.1687C > T p.Gln563Ter 1806C > T N 40–49 BRZ S III + [30]
39 c.2215A > T p.Lys739Ter K739X N 50–59 (BC ≤50) BRZ S III NC [BIC]
17 c.3331_3334delCAAG p.Gln1111Asnfs 3450del4 F 30–39 IND/BRZ/EUR S III + [5, 11, 13, 30]
42 c.3331_3334delCAAG p.Gln1111Asnfs 3450del4 F 50–59 IND/BRZ/EUR S III + [5, 11, 13, 30]
107 c.3331_3334delCAAG p.Gln1111Asnfs 3450del4 F 50–59 (BC ≤50) BRZ/EUR E III + [5, 11, 13, 30]
50 c.4484G > T p.Arg1495Met R1495M M 30–39 BRZ S III - [4]
37 c.4484G > T p.Arg1495Met R1495M M 50–59 IND/BRZ S IV + [4]
106 c.4675+1G > A - IVS15+1G >A Ss 40–49 BRZ/EUR S III - [4]
67 c.5074+2 T > C - IVS17+2 T >C Ss 60–69 BRZ/EUR S III + [BIC]
85 c.5098_5098delA p.Thr1700Hisfs 5217delA F 40–49 BRZ/EUR S IV - [BIC]
26 c.5266dupC p.Gln1756Profs 5382insC F 50–59 EUR S IV + [11, 13, 32]
56 c.5266dupC p.Gln1756Profs 5382insC F 50–59 (BC ≤50) BRZ S III + [11, 13, 32]
108 c.5266dupC p.Gln1756Profs 5382insC F 40–49 IND/BRZ S III UK [11, 13, 32]
101 Exon 1–2 deleteda - - LGR 50–59 BRZ S III + [37, 38]
9 Exon 5–7 deleteda - - LGR 50–59 BRZ /EUR S III - [37, 38]
BRCA2
74 c.1963_1963delC p.(Pro655fs) ND F 60–69 EUR S III + Current Study
102 c.5576_5579delTTAA p.Ile1859_Lys1860?fs 5804del4 F 60–69 JAP S III + [30]
  1. ID patient identification; Type: F frameshift, N nonsense, M missense, Ss splice site, LGR large genomic rearrangement; Age in years (range); BC previous breast cancer history; Ancestry: BRZ Brazilian, IND Indigenous, EUR European, JAP Japanese, CS clinical stage, HT histological type, S serous, E endometrioid, FH family history for breast and/or ovarian cancer: (+): present, (−): absent, NC not completely known, UK unknown, BIC breast cancer information core, ND not described mutation
  2. aIndicates mutations detected by MLPA