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). |