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. 2021 Oct 21;2021:4854282. doi: 10.1155/2021/4854282

Table 1.

Showing the details of ClinVar pathogenic mutations in BRCA1 and BRCA2 genes in 141 patients with ovarian cancer.

Patient ID Tissue type Gene Exon Mutated site Protein Variant types
1 Tumor tissue BRCA1 10 c.3286C>T p.Gln1096Ter Nonsense
2 Tumor tissue BRCA1 10 c.784C>T p.Gln262Ter Nonsense
3 Tumor tissue BRCA1 10 c.3214delC p.Leu1072Ter Nonsense
4 Peripheral blood BRCA1 10 c.2110_2111del p.Asn704Cysfs∗7 Frameshift
5 Tumor tissue BRCA1 10 c.2110_2111del p.Asn704Cysfs∗7 Frameshift
6 Peripheral blood BRCA1 10 c.4065_4068del p.N1355Kfs∗10 Frameshift
7 Tumor tissue BRCA1 10 c.4065_4068del p.N1355Kfs∗10 Frameshift
8 Tumor tissue BRCA1 10 c.2388_2389del p.Thr796fs Frameshift
9 Tumor tissue BRCA1 10 c.3868dupA p.C1291Mfs∗4 Frameshift
10 Tumor tissue BRCA1 10 c.1504_1508del p.Leu502fs Frameshift
11 Peripheral blood BRCA1 10 c.2889_2890del p.G964Tfs∗6 Frameshift
12 Tumor tissue BRCA1 10 c.1276del p.S426Qfs∗4 Frameshift
13 Tumor tissue BRCA1 10 c.2302delA p.Ser768Valfs∗24 Frameshift
14 Tumor tissue BRCA1 12 c.4357+1G>A / Splicing mutation
15 Tumor tissue BRCA1 13 c.4485-2A>C / Splicing mutation
16 Tumor tissue BRCA1 14 c.4566G>C p.Tyr1522Ter Nonsense
17 Tumor tissue BRCA1 15 c.4756G>T p.Glu1586Ter Nonsense
18 Tumor tissue BRCA1 23 c.5468-2A>G / Splicing mutation
19 Tumor tissue BRCA1 23 c.5511_5524del p.W1837Cfs∗38 Deletion
20 Tumor tissue BRCA2 9 c.755_758del p.Asp252Valfs∗24 Frameshift
21 Tumor tissue BRCA2 11 c.3109C>T p.Gln1037Ter Nonsense
22 Peripheral blood BRCA2 11 c.3109C>T p.Gln1037Ter Nonsense
23 Tumor tissue BRCA2 11 c.C3523T p.Gln1175Ter Nonsense
24 Tumor tissue BRCA2 11 c.5576_5579delTTAA p.Idel1859Lysfs Frameshift
25 Tumor tissue BRCA2 11 c.5164_5165delAG p.Ser1722Tyrfs Frameshift
26 Tumor tissue BRCA2 11 c.2176delG p.V726Ffs∗4 Frameshift
27 Peripheral blood BRCA2 22 c.8915delT p.leu2972Cysfs∗4 Deletion