Overview of Asian BRCA1/BRCA2 pathogenic mutations included in this review
| Country† | BRCA1 mutations | BRCA2 mutations | ||||||
|---|---|---|---|---|---|---|---|---|
| Total distinct mutations | Total no. of cases | Frequently occurring mutations‡ (no. of entries) | References | Total distinct mutations | Total no. of cases | Frequently occurring mutations‡ (no. of entries) | References | |
| Eastern Asia (no data was available for North Korea.) | ||||||||
| China | 37 | 48 | c.981_982delAT (4), c.1465G>T (3), c.5470_5477del8 (4) | 11 13 46 | 41 | 51 | c.1832C>A (3), c.6591_6592delTG (3) | 11 13 |
| Hong Kong | 44 | 63 | c.470_471delCT (10), c.4372C>T (4), c.5406+1_5406+3delGTA (3) | 14 47 | 39 | 68 | c.2808_2811delACAA (3), c.3109C>T (15), c.7878G>A (5) | 14 |
| Japan | 34 | 46 | c.188T>A (10) | 48 49 | 26 | 35 | c.5576_5579delTTAA (4), c.6952C>T (4), | 49 |
| Korea | 51 | 172 | c.390C>A (27), c.922_923delAG (7), c.1961delA (7), c.5030_5033delCTAA (6), c.5080G>T (6), c.5444G>A (10), c.5467+1G>A (6), c.5470_5477del8 (7), c.5496_5506del11insA (20) | 26 50–52 | 69 | 278 | c.1399A>T (26), c.3744_3747delTGAG (24), c.5576_5579delTTAA (15), c.6724_6725delGA (8), c.7480C>T (51), c.9076C>T (10) | 26 52 |
| Mongolia | 1 | 1 | c.3333delA (1) | 53 | – | – | – | |
| Taiwan | 3 | 3 | c.5030_5033delCTAA (1), c.5335delC (1), c.5536C>T (1) | 39 | 3 | 3 | c.2442delC (1), c.2845delT (1), c.6468_6469delTC (1) | 38 |
| South-eastern Asia (no data was available for Cambodia, Lao and other south-eastern Asia countries) | ||||||||
| Indonesia | 1 | 1 | Deletion of exon 13 to exon 15 (1) | 19 | 3 | 5 | c.2471_2476delTAAATG (2), c.6547G>T (2) | 19 |
| Malaysia | 39 | 55 | c.68_69delAG (3), c.135–1G>C (3), c.470_471delCT (3), c.4148C>G (3) | 28 | 32 | 40 | c.262_263delCT (5), c.2808_2811delACAA (3) | 28 |
| Philippines | 3 | 3 | p.Gln1538* (1), c.5335delC (1), p.Arg1835* (1) | 34 | 7 | 12 | c.4631delA (4) | 34 |
| Singapore | 20 | 32 | c.68_69delAG (2), c.2726dupA (9), c.3858_3861delTGAG (2) | 36 54 | 16 | 17 | c.4151delT (2) | 36 |
| Thailand | 4 | 6 | c.3181delA (2), c.3748G>T (2) | 33 40 | 5 | 11 | c.5299_5307del9 (5) | 33 40 |
| Vietnam | 1 | 1 | c.66dupA (1) | 9 | 1 | 1 | c.4478_4481delAAAG (1) | 9 |
| South-central Asia (no data was available for Afghanistan, Kazakhstan and other south-central Asia countries) | ||||||||
| Bangladesh | 3 | 3 | c.2269delG (1), Duplication of exon 20–24 (1), Deletion of exon 24 (1) | 3 | 3 | c.4078delG (1), c.4570_4573delTTTC (1), c.5622_5628delTAAGGAA (1) | ||
| India | 16 | 32 | c.68_69delAG (15), c.5260G>T (3) | 16–18 55 | 9 | 9 | ||
| Iran | 7 | 11 | c.969_970insC (3), c.1016delA (3) | 21 22 | 2 | 2 | c.3751dupA (1), c.6033_6034insGT (1) | 22 |
| Pakistan | 34 | 56 | c.66dupA (4), c.1961dupA (3), c.4065_4068delTCAA (4), c.4485–1G>A (3), c.4508C>A (6) | 31 32 | 20 | 21 | c.3109C>T (2), | 31–33 |
| Sri Lanka | 4 | 4 | c.737T>G (1), c.2967delT (1), c.5075–2A>T (1), c.5289delG (1) | 56 | 3 | 6 | c.2175_2176insA (4) | 57 |
| Western Asia (no data was available for Georgia, Jordan, Kuwait and other western Asia countries) | ||||||||
| Iraq | 1 | 1 | c.68_69delAG (1) | 23 | – | – | ||
| Israel§ | 8 | 30 | c.2934T>G (23) | 25 58 | 7 | 8 | c.1763_1766delATAA (2) | 25 |
| Lebanon | 3 | 5 | c.131G>T (2), c.5444G>A (2) | 27 | 2 | 2 | c.5576_5579delTTAA (1), c.9257–1G>A (1) | 27 |
| Oman | 2 | 4 | Deletion (2)/ duplication (2) of exon 1–2 | 30 | – | – | ||
| Saudi Arabia | – | – | – | 1 | 1 | c.2254_2257delGACT (1) | 59 | |
| Syria | 1 | 1 | c.68_69delAG (1) | 23 | – | – | – | |
| Turkey | 18 | 42 | Deletion of exon 1–2 (17), Deletion of exon 18 (3), c.5266dupC (6) | 42 45 | 6 | 7 | c.9100_9101insC (2) | 41 42 44 60 |
| Yemen | 1 | 2 | c.68_69delAG (2) | 23 | 1 | 3 | ||
| Beyond Asia (cases of Asian descent) | ||||||||
| Canada | 2 | 2 | c.1016delA (1), c.3288_3289delAA (1) | 3 | 3 | c.905_906insA (1), c.8954–5A>G (1), c.9117G>A (1) | ||
| USA | 37 | 49 | p.Tyr130* (2), p.Gln563* (2), c.3442delG (3), c.5059delG (3), p.Arg1751* (6) | 50 | 69 | c.1399A>T (2), c.1583delA (2), c.3109C>T (7), p.Tyr1894* (3), Duplication of exon 15 to 18 (5) | ||
†Countries were grouped based on the geographical definition from GLOBOCAN.
‡Only the most common BRCA1/BRCA2 mutations identified in each country are presented. The full BRCA1/BRCA2 mutation spectra are listed in the online supplementary tables S1 and S2.
§Only Jews of Asian origin were included in this study.