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. 2024 Apr 19;24:499. doi: 10.1186/s12885-024-12246-1

Table 1.

Mutations found in BRCA1 and BRCA2 genes in women with HGSOC

Women Age Gene Location Mutation Type Cases of familial cancer (age)
1 51 BRCA1 exon 13

c.4484G > T

p.(Arg1495Met)

 Missense Breast (30; 59 and 63); lung (65); ovary (30); renal (60); stomach (89); and uterus (NI).
2 56 BRCA1 exon 13

c.4484G > T

(p.R1495M)

 Missense NI
3 40 BRCA1 exon 10

c.2215 A > T

p.(Lys739*)

 Nonsense Breast (30); breast (34); breast (35); uterus (57).
4 48 BRCA1 exon 10

c.2215 A > T

p. (Lys739Ter)

 Nonsense NI
5 40 BRCA1 exon 10

c.2215 A > T;

p.Lys739Ter (het)

 Nonsense Breast (40); breast (43).
6 42 BRCA1 exon 19

c.5266dupC

(Gln1756Profs*74)

 Frameshift Breast (< 40); breast (> 50); breast (NI).
7 47 BRCA1 exon 19

c.5266dupC

p.(Gln1756Profs)

 Frameshift No family history.
8 46 BRCA1 exon 20

c.5266dupc

p.Gln1756Profs*74(het)

 Frameshift Intestine (50); ovary (48); prostate (60); CUP (60).
9 41 BRCA1 exon 11

c.1687 C > T

p.GIn563Ter (het)

 Nonsense Ovary (46); uterus (35); cousin (NI).
10 61 BRCA1 exon 10

c.2761 C > T

(p.Q921X)

 Nonsense Intestine (67); uterus (39).
11 66 BRCA1 exon 11 c.4165_4166delAG (p.S1389X) Frameshift Breast (35); breast (61).
12 48 BRCA1 intron 17 c.5074 + 2T > C (het) Splice site Breast (28); breast (44); intestine (> 50).
13 54 BRCA1 exon 10 c.921dupT (p.S309Ffs*6) Frameshift Breast (38); male breast (58).
14 57 BRCA2 exon 11

c.5611_5615del

p.K1872Nfs*2

 Frameshift Ovary (NI); ovary (NI).
15 55 BRCA2 exon 16 c.7645dupT (het) NI Breast (> 50); prostate (30); thyroid (30).
VUS
16 19 BRCA2 exon 11 c.5612G > A p.(Ser1871Asn) Missense No family history.
17 59 BRCA2 exon 16

c.7712 A > G;

p.Glu2571Gly (het)

 Missense Lung (55); uterus (57); thyroid (59).

Abbreviation: NI Not informed, CUP Cancer of unknown primary, VUS Variants of uncertain significance