Table 1.
Germline Mutations in BRCA1 and BRCA2
|
No. of Confirmed (Unconfirmed) Cases of Cancer |
Description of Mutation |
|||||||
| Family | Ovarian | Breast | Gene | Exon orIntron | Codon | Nucleotide | Alteration | Type |
| OV010 | 3 (1) | 1 (3) | BRCA1 | Exon 2 | 23 | 185 | 185delAG | Frameshift |
| OV022 | 3 | 1 | BRCA1 | Intron 5 | — | 331 | 331+2T→C | Splice site |
| OV131 | 2 | 1 (2) | BRCA1 | Intron 6 | — | 421 | 421-2delA | Splice site |
| OV047 | 3 (2) | 2 (2) | BRCA1 | Exon 8 | 169 | 624T→G | Gln169ter | Nonsense |
| OV008 | 3 (1) | 2 (2) | BRCA1 | Exon 11 | 367 | 1220 | 1220insC | Frameshift |
| OV002 | 6 | 3 (1) | BRCA1 | Exon 11 | 392 | 1294 | 1294del40 | Frameshift |
| OV110 | 2 | 1 | BRCA1 | Exon 11 | 392 | 1294 | 1294del40 | Frameshift |
| OV150 | 4 | 2 | BRCA1 | Exon 11 | 392 | 1294 | 1294del40 | Frameshift |
| OV132 | 3 | 0 (1) | BRCA1 | Exon 11 | 607 | 1938A→T | lys607ter | Nonsense |
| OV014 | 3 (3) | 0 | BRCA1 | Exon 11 | 608 | 1942 | 1942del4 | Frameshift |
| OV069 | 2 | 0 | BRCA1 | Exon 11 | 627 | 2000 | 2000del4 | Frameshift |
| OV001 | 3 | 1 (1) | BRCA1 | Exon 11 | 652 | 2073 | 2073delA | Frameshift |
| OV020 | 3 | 1 (1) | BRCA1 | Exon 11 | 652 | 2073 | 2073delA | Frameshift |
| OV175 | 2 | 2 (1) | BRCA1 | Exon 11 | 655 | 2082 | 2082insG | Frameshift |
| OV252 | 3 | 2 (2) | BRCA1 | Exon 11 | 690 | 2187 | 2190delA | Frameshift |
| OV181 | 2 | 2 (1) | BRCA1 | Exon 11 | 871 | 2731 | 2731insT | Frameshift |
| OV133 | 2 (1) | 1 (1) | BRCA1 | Exon 11 | 885 | 2774 | 2774delCT | Frameshift |
| OV171 | 2 | 0 | BRCA1 | Exon 11 | 916 | 2867 | 2867insA | Frameshift |
| OV013 | 2 | 0 | BRCA1 | Exon 11 | 1001 | 3121 | 3121delA | Frameshift |
| OV029 | 6 | 1 (1) | BRCA1 | Exon 11 | 1001 | 3121 | 3121delA | Frameshift |
| OV160 | 2 | 0 | BRCA1 | Exon 11 | 1001 | 3121 | 3121delA | Frameshift |
| OV189 | 3 | 0 | BRCA1 | Exon 11 | 1056 | 3286 | 3286delC | Frameshift |
| OV012 | 7 (1) | 1 | BRCA1 | Exon 11 | 1112 | 3452 | 3452del4 | Frameshift |
| OV033 | 2 | 0 | BRCA1 | Exon 11 | 1112 | 3452 | 3452del4 | Frameshift |
| OV007 | 4 (3) | 0 (1) | BRCA1 | Exon 11 | 1252 | 3875 | 3875del4 | Frameshift |
| OV206 | 3 (4) | 0 | BRCA1 | Exon 11 | 1252 | 3875 | 3875del4 | Frameshift |
| OV282 | 3 | 1 | BRCA1 | Exon 11 | 1252 | 3875 | 3875del4 | Frameshift |
| OV025 | 3 (3) | 2 | BRCA1 | Exon 11 | 1289 | 3986 | 3986delAA | Frameshift |
| OV019 | 3 | 1 | BRCA1 | Exon 11 | 1355 | 4184 | 4184del4 | Frameshift |
| OV042 | 2 (2) | 1 (5) | BRCA1 | Exon 11 | 1355 | 4184 | 4184del4 | Frameshift |
| OV044 | 3 (7) | 0 (7) | BRCA1 | Exon 11 | 1355 | 4184 | 4184del4 | Frameshift |
| OV245 | 3 | 0 (1) | BRCA1 | Exon 11 | 1355 | 4184 | 4184del4 | Frameshift |
| OV161 | 6 | 1 | BRCA1 | Exon 12 | 1395 | 4304 | 4304G→A | Splice site |
| OV226 | 2 (1) | 0 (1) | BRCA1 | Exon 13 | 1443 | 4446C→T | Arg1443ter | Nonsense |
| OV003 | 2 (1) | 2 | BRCA1 | Intron 13 | — | 4476 | 4476+6T→C | Splice site |
| OV148 | 2 (1) | 2 | BRCA1 | Exon 16 | 1648 | 5061 | 5061delA | Frameshift |
| OV073 | 3 | 0 (1) | BRCA1 | Exon 20 | 1749 | 5365C→G | Pro1749Arg | Missense |
| OV139 | 2 | 0 (1) | BRCA1 | Exon 20 | 1755 | 5382 | 5382insC | Frameshift |
| OV074 | 2 | 0 (1) | BRCA1 | Exon 24 | 1835 | 5622C→T | Arg1835ter | Nonsense |
| OV224 | 2 (1) | 1 (7) | BRCA1 | Exon 24 | 1837 | 5629 | 5629delG | Frameshift |
| OV092 | 2 (1) | 2 (1) | BRCA2 | Exon 11 | 1366 | 4326 | 4326insCATC | Frameshift |
| OV072 | 3 | 0 | BRCA2 | Exon 11 | 1491 | 4701 | 4701delGAAA | Frameshift |
| OV140 | 2 | 1 | BRCA2 | Exon 11 | 1602 | 5032 | 5032insA | Frameshift |
| OV027 | 2 | 1 (1) | BRCA2 | Exon 11 | 1782 | 5573 | 5573delAA | Frameshift |
| OV085 | 2 | 0 | BRCA2 | Exon 11 | 1782 | 5573 | 5573delA | Frameshift |
| OV254 | 2 (1) | 0 (2) | BRCA2 | Exon 11 | 1970 | 6137C→A | Ser1970ter | Nonsense |
| OV016 | 3 | 4 | BRCA2 | Exon 11 | 2092 | 6503 | 6503delTT | Frameshift |
| OV162 | 3 | 1 | BRCA2 | Exon 11 | 2092 | 6503 | 6503delTT | Frameshift |