Table 2

Overview of Asian BRCA1/BRCA2 pathogenic mutations included in this review

Country†BRCA1 mutationsBRCA2 mutations
Total distinct mutationsTotal no. of casesFrequently occurring mutations‡ (no. of entries)ReferencesTotal distinct mutationsTotal no. of casesFrequently occurring mutations‡ (no. of entries)References
Eastern Asia (no data was available for North Korea.)
China3748c.981_982delAT (4), c.1465G>T (3), c.5470_5477del8 (4)11 13 464151c.1832C>A (3), c.6591_6592delTG (3)11 13
Hong Kong4463c.470_471delCT (10), c.4372C>T (4), c.5406+1_5406+3delGTA (3)14 473968c.2808_2811delACAA (3), c.3109C>T (15), c.7878G>A (5)14
Japan3446c.188T>A (10)48 492635c.5576_5579delTTAA (4), c.6952C>T (4),49
Korea51172c.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 50–5269278c.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
Mongolia11c.3333delA (1)53
Taiwan33c.5030_5033delCTAA (1), c.5335delC (1), c.5536C>T (1)3933c.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)
Indonesia11Deletion of exon 13 to exon 15 (1)1935c.2471_2476delTAAATG (2), c.6547G>T (2)19
Malaysia3955c.68_69delAG (3), c.135–1G>C (3), c.470_471delCT (3), c.4148C>G (3)283240c.262_263delCT (5), c.2808_2811delACAA (3)28
Philippines33p.Gln1538* (1), c.5335delC (1), p.Arg1835* (1)34712c.4631delA (4)34
Singapore2032c.68_69delAG (2), c.2726dupA (9), c.3858_3861delTGAG (2)36 541617c.4151delT (2)36
Thailand46c.3181delA (2), c.3748G>T (2)33 40511c.5299_5307del9 (5)33 40
Vietnam11c.66dupA (1)911c.4478_4481delAAAG (1)9
South-central Asia (no data was available for Afghanistan, Kazakhstan and other south-central Asia countries)
Bangladesh33c.2269delG (1), Duplication of exon 20–24 (1), Deletion of exon 24 (1)33c.4078delG (1), c.4570_4573delTTTC (1), c.5622_5628delTAAGGAA (1)
India1632c.68_69delAG (15), c.5260G>T (3)16–18 5599
Iran711c.969_970insC (3), c.1016delA (3)21 2222c.3751dupA (1), c.6033_6034insGT (1)22
Pakistan3456c.66dupA (4), c.1961dupA (3), c.4065_4068delTCAA (4), c.4485–1G>A (3), c.4508C>A (6)31 322021c.3109C>T (2),31–33
Sri Lanka44c.737T>G (1), c.2967delT (1), c.5075–2A>T (1), c.5289delG (1)5636c.2175_2176insA (4)57
Western Asia (no data was available for Georgia, Jordan, Kuwait and other western Asia countries)
Iraq11c.68_69delAG (1)23
Israel§830c.2934T>G (23)25 5878c.1763_1766delATAA (2)25
Lebanon35c.131G>T (2), c.5444G>A (2)2722c.5576_5579delTTAA (1), c.9257–1G>A (1)27
Oman24Deletion (2)/ duplication (2) of exon 1–230
Saudi Arabia11c.2254_2257delGACT (1) 59
Syria11c.68_69delAG (1)23
Turkey1842Deletion of exon 1–2 (17), Deletion of exon 18 (3), c.5266dupC (6)42 4567c.9100_9101insC (2)41 42 44 60
Yemen12c.68_69delAG (2)2313
Beyond Asia (cases of Asian descent)
Canada22c.1016delA (1), c.3288_3289delAA (1)33c.905_906insA (1), c.8954–5A>G (1), c.9117G>A (1)
USA3749p.Tyr130* (2), p.Gln563* (2), c.3442delG (3), c.5059delG (3), p.Arg1751* (6)5069c.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.