BRCA1 sequence alterations in Singapore Malay patients with early onset breast/ovarian cancer
| Case | Exon | Sequence alteration | Amino acid change | Age (years) | Family history | |
|---|---|---|---|---|---|---|
| Breast /ovarian cancer | Other cancers | |||||
| Brn, brain; Br, breast; Co, colon; Ov, ovary; St, stomach; CSU, cancer site unknown; del:deletion; ins:insertion. | ||||||
| Affected relatives in parentheses: F, father; M, mother; MA, maternal aunt; MC, maternal cousin; MGF, maternal grandfather; S, sister. | ||||||
| BRCA1 sequence variants | ||||||
| Frameshift mutation | ||||||
| N536 (Br) | 11 | c.2845insA | N909fsX5 | 35 | Br33 (S) | Co58 (F) |
| N587 (Br) | 11 | c.2845insA | N909fsX5 | 44 | Br60 (M), Br50 (MA) | Nil |
| N610 (Br) | 11 | c.2845insA | N909fsX5 | 35 | Ov49 (M) | CSU (MA) |
| N521(Ov) | 11 | c.2845insA | N909fsX5 | 49 | Br37 (S), Br30 (MA), Br40 (MC) | Nil |
| N576 (Ov) | 11 | c.2845insA | N909fsX5 | 50 | Nil | Nil |
| N590 (Ov) | 11 | c.2845insA | N909fsX5 | 40 | Nil | St (MA) |
| Missense mutations | ||||||
| N591 (Br) | 6 | c.335C→A | S72R | 41 | Nil | Nil |
| N536 (Br) | 10 | c.778C→A | S220Y | 35 | Br33 (S) | Co59 (F) |
| Neutral polymorphisms | ||||||
| N33 (Br) | 3 | 233G→A | K38K | 38 | Nil | Nil |
| N522 (Br) | 3 | 233G→A | K38K | 32 | Nil | Nil |
| N599 (Br) | 17 | c.5106-68A→G | IVS16-68A→G | 29 | Nil | Co70 (MGF) |
| N616 (Br) | 17 | c.5106-68A→G | IVS16-68A→G | 35 | Nil | — |
| N599 (Br) | 17 | c.5106-92A→G | IVS16-92A→G | 29 | Nil | Co70 (MGF) |
| N616 (Br) | 17 | c.5106-92A→G | IVS16-92A→G | 35 | Nil | Nil |
| Intronic variants | ||||||
| N591 (Br) | 6 | c.420+26CA→AC | IVS6+26CA→AC | 41 | Nil | Nil |
| N591 (Br) | 6 | c.432-44G→A | IVS5-44G→A | 41 | Nil | Nil |
| N511 (Br) | 8 | c.561-34T→C | IVS7-34T→C | 34 | Nil | Brn53 (F) |
| N587 (Br) | 18 | c.5272+72G→C | IVS18+72G→C | 44 | Br60 (M), Br50 (MA) | Nil |