BioMed Research International / 2014 / Article / Tab 2

Research Article

Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing

Table 2

Pathogenic mutations in the validation set tested for the evaluation of the AVA 2.7 software.

Variant HGVSGeneVariant freq. % (number of reads)
forwardreverse

c.70_71insTGTCBRCA1 55.88 (68)59.32 (59)
c.1121-1123delCACinsTBRCA1 35 (60)49.25 (67)
c.1961delABRCA1 38.68 (106)31.07 (103)
c.2921T>A (p.L974X)BRCA1 51.16 (43)36.21 (58)
c.3767_3768delCABRCA1 26 (50)54.69 (64)
c.3770-3771delAGBRCA1 50 (50)47.46 (59)
c.4107-4110dupATCTBRCA1 54.24 (59)51.85 (54)
c.5123C>ABRCA1 52.38 (42)56.25 (48)
c.1842dupTBRCA2 56.00 (25)55.17 (29)
c.5350-5351delAAinsTBRCA2 48.92 (139)54.08 (98)
c.6275-6276delTTBRCA2 47.41 (116)38.13 (139)
c.7617+1G>ABRCA2 34.78 (23)48.28 (29)
c.8946delAaBRCA2 100 (52)44.44 (36)
c.9026_9030delATCATBRCA2 50.94 (53)40.54 (37)

Mutation located in a homopolymeric region.