Table 1: The most important and frequent polymorphisms of BRCA1 and BRCA2 genes around the world.

GeneType of polymorphism
Unclassified polymorphismsMissense polymorphisms

BRCA1 E1038G, P871L, K1183R, S1613G, M1652I, D1778G [19], S1436S, L771L, E1038G [23], A1708E [33]
IVS7+36T>C, IVS7+38T>C, IVS7+41C>T, IVS7+49del15 [23], (IVS16−68G>A, IVS16−92G>A, IVS18+65G>A [23]c.2196G>A, c.3232A>G, c.3667A>G, c.4956A>G, c.5075G>A [23]
S1040N [27], g.5075−53C>T, g.*381_389del9ins29 [31]Q944E, S919P [24], c.4185+3A>G [27],
c.302−3C>G, c.4185G>A and c.4675+1G>A [26], IVS18+1 G>T, 5632T>A (V1838E) [30], Y179 in association with F486L [29], Q356R and S1512I [36], 3232A>G [37], L1198W and R1347G [35], c.9023A/C [36], 4817A>G [38]

BRCA2 IVS16−14T>C [35]
c.475G>A, c.7007G>A, c.476−2>G; c.7007G>A; c.8755−1G>A; c.9117+2T>A and c.9118−2A>G [28], 1342A>C [37], S1832P, T2766I, N2781I, and K2860T [35], c.72A>T [36], K3083E or 9475A>G [40]