Table 2. Novel mutations in BRCA1/2detected in 940 probands with personal and/or family history of breast/ovary cancer.
| ID | Exon/Intron | Mutation | HGVS cDNA | HGVS protein | STOP codon | PH (age) | FH (1st and 2nd degree) |
|---|---|---|---|---|---|---|---|
| BRCA1 | |||||||
| AB0425 | 11 | FrameShift | c.1140delG | p.Gln380=fs | Leu393* | healthy (46) | Br/Ov |
| AB0020 | 11 | FrameShift | c.1502_1505delAATT | p.Lys501=fs | Glu530* | Br (32) | NO |
| AB0067 | 11 | FrameShift | c.2507_2508delAA | p.Glu836Glyfs | Val837* | Br (50) | Br |
| AB0085 | 11 | FrameShift | c.2686delA | p.Ser896Valfs | Leu999* | Br (55) | Br |
| AB0017 | 11 | FrameShift | c.3758_3759delCT | p.Ser1253* | Ser1253* | Br (31) | Br |
| AB0278 | 23 | FrameShift | c.5463_5464insT | p.His1822Serfs | Glu1829* | Br (36) | Br |
| AB0568 | 11 | Nonsense | c.4042G>T | p.Gly1348* | Gly1348* | Br (25) | Br |
| AB0084 | 11 | Nonsense | c.2728C>T | p.Gln910* | Gln910* | Ov (55) | Br, Ov, Co |
| BRCA2 | |||||||
| AB0364 | 7 | Splicedefect | c.517G>T | p.Gly173Cys | Br (48) | Br/Pr | |
| AB0099 | 9i | Splicedefect | c.793+1delG | BR(35) | Br | ||
| AB0615 | 16i | Splicedefect | c.7805+2delTA | Ov (43 & 46) | Br/Ov | ||
| AB0211 | 21i | Splicedefect | c.8754+1G>A | Br (33)/Ov (36) | Br/Pr | ||
| AB0034X | 11 | FrameShift | c.3343delT | p.Ser1115Leufs | Leu1118* | Br (33) | NO |
| AB0314 | 11 | FrameShift | c.4740_4741dupTG | p.Glu1581Valfs | Ser1617* | Br (37) | Br |
| AB0384 | 11 | FrameShift | c.4963delT | p.Tyr1655Thrfs | Leu1669* | healthy (36) | Br/Mel/Pancr |
| AB0225 | 11 | FrameShift | c.5669_5673delTGGCA | p.Met1890Argfs | Leu1897* | Br (52) | Br |
| AB0098 | 14 | FrameShift | c.7110dupA | p.Ser2371Ilefs | Glu2391* | Br (31) | Br |
| AB0322 | 14 | FrameShift | c.7230delT | p.Phe2410Leufs | Val2466* | healthy (41) | Br |
| AB0392 | 18 | FrameShift | c.8021delAa | p.Lys2674Argfs | Ile2675* | Br (40) | Br |
| AB0078U | 19 | FrameShift | c.8463dupT | p.Ile2822Tyrfs | Glu2844* | Br / Ov (54) | NO |
| AB0048Y | 26 | FrameShift | c.9498delT | p.Val3166=fs | Leu3216* | Healthymale (65) | Br |
| AB0508 | 27 | FrameShift | c.9789_9790delGA | p.Lys3263=fs | Ser3275* | Br (46) | Br |
PH: Personal historyof cancer; FH: Family historyof cancer; Br: Breast; Ov: Ovary; Co: colon; Pr: Prostate; Mel: Melanoma; Pancr: Pancreas.
ª: coexistent with BRCA1 c.4484+3A>G also novel.
Age range at first diagnostic: 25-55 years; mean+SD=40.89+9.65 (n =18)