Table 5. Large rearrangements in the BRCA1 gene detected in 940 probands with personal and/or family history of breast/ovary cancer.
ID | Exonsdeleted | HGVS cDNA | PH (age) | FH (1st and 2nd degree) | Nationality / ancestry of families |
---|---|---|---|---|---|
AB0064X | del 5´UTR thruexon 2 | c.1-?_80+?del | Br (35) | Br | Spanish |
AB0627 | del 5´UTR thruexon 2 | c.1-?_80+?del | Ov (40) | Br | Spanish |
AB0473 | del exons 5 thru 10 | c.135-?_670+?del | Br (31) | Br/Gastric Cancer | Slovenian |
AB0353 | del exons 11 thru 15 | c.671-?_4675+?del | Ov (35) | Br | Spanish |
AB006H | del exons 15 and 16 | c.4485-?_4986+?del | Br (45) | Br | French |
PH: Personal history of cancer; FH: Family history of cancer; Br: Breast; Ov: Ovary