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Table 2 Description of BRCA1 and BRCA2 variants and clinical and pathological characteristics

From: Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil

ID HGVS cDNA HGVS protein ACMG Classification Variant Type Age Ranges Histology FIGO stage Family Historya
BRCA1
 1 c.4153_4154delCT p.Leu1385llefs*5 LP F 40-49 S IIIC +
 2 c.5074 + 2 T > C p.? P Ss 60–69 LGSC IIIC +
 3 c.211A > G p.Arg71Gly P M 40–49 S IIIC +
 4 C.4484G > T p.Argt1495Met P M 40–49 E IIIC +
 5 c.1612C > T p.Gln538Ter P N 60–69 S IV +
 6 c.3331_3334delCAAG p.Gln1111Asnfs*5 P F 40-49 S IIIC +
 7 c.3331_3334delCAAG p.Gln1111Asnfs*5 P F 30-39 S IIIC +
 8 c.3331_3334delCAAG p.Gln1111Asnfs*5 P F 50-59 S IIIC +
 9 c.5266dup p.Gln1756Profs*74 P F 60-69 S IV
 10 c.5266dup p.Gln1756Profs*74 P F 70-79 S IV +
 11 c.5266dup p.Gln1756Profs*74 P F 40-49 S IIIC +
 12 c.5266dup p.Gln1756Profs*74 P F 50-59 UC IIIC
 13 c.5266dup p.Gln1756Profs*74 P F 40-49 S IIIC +
 14 c.1687C > T p.Gln563Ter P N 50–59 S IV
 15 c.67_75delGAGTGTCCC p.Glu23_Pro25del LP Indel 60–69 S IIIC
 16 c.4117G > T p.Glu1373Ter P N 40–49 UC IIB
 17 c.3477_3480delAAAG p.Ile1159Metfs P F 50–59 S IIIC +
 18 c.188 T > A p.Leu63Ter P N 40–49 S IV +
 19 c.1961delA p.Lys654Serfs*47 P F 60-69 S IIIC +
 20 c.3270_3273delACCT p.Pro1091Argfs*17 LP F 40-49 S IIIB
 21 c.798_799delTT p.Ser267Lysfs*19 P F 50-59 S IIIC +
 22 c.2368A > G p.Thr790Ala LB M 30–39 LGSC IIIC
 23 c.5558A > G p.Tyr1853Cys US M 50–59 S IIIC +
 24 c.533 T > C p.Val178Ala US M 30–39 E IIIC
 25 c.2077_2078insTA p.Asp693Valfs*9 P F 40-49 S IV +
 26 c.1067A > G p.Gln356Arg B M 60–69 S IIIC
 27 c.5123C > A p.Ala1708Glu P M 40–49 S IIIC +
 28 c.1066C > T p.Gln356Ter P N 50–59 S IV
 29 c.4964C > T p.Ser1655Phe US M 40–49 E IIIC +
 30 c. 211A > G p.Arg71Gly P M 40–49 S IIIC +
 31 del exon 16 p? P D 40–49 S IIIC
 32 c.547 + 2 T > A p? P Ss 50–59 S IV
BRCA2
 33 c.4129A > G p.Asn1377Asp US M 30–39 S IIIC
 34 c.8488-1G > A p.? P Ss 50–59 S IIIC
 35 c.794-22C > T p.? LB Ss 30–39 S IIIC
 36 c.7601C > T p.Ala2534Val LB M 60–69 CC IV +
 37 c.323A > G p.Asn108Ser US M 70–79 S IIIC  
 38 c.6491_6494delAGTT p.Gln2164Argfs*3 P F 50–59 CS IIIC +
 39 c.3680_3681delTG p.Leu1227Glnfs*5 P F 60-69 S IIIC
 40 c.8878C > T p.Gln2960Ter P N 50–59 S IIIC +
 41 c.6656C > G p.Ser2219Ter P N 50–59 S IIIC
 42 c.1792A > G p.Thr598Ala LB M 40–49 S IC
 43 c.4928 T > C p.Val1643Ala LB M 80–89 S IIIC
 44 c.738delT p.Phe246Leufs*5 LP F 40-49 S IV
 45 c.9101A > G p.Gln3034Arg US M 80–89 S IV +
  1. P Pathogenic variant, LP Likely pathogenic variant, US Variant of uncertain significance, LB Likely benign variant, B Benign variant, F Frameshift, N Non sense, M Missense, IndDel Inframe insertions or deletions, Ss Splice site, D Large deletion, S High grade serous carcinoma, E Endometrioid carcinoma, UC Undifferentiated carcinoma, CC Clear cell carcinoma, CS Carcinossarcoma, LGSC Low grade serous carcinoma
  2. aPositive family history if: history of breast or ovarian carcinoma in first or second degree relatives or patient with previous breast cancer