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Table 1 List of the most common BRCA mutations and their recurrence in the CRO Aviano database and BIC database

From: Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

GENE MUTATIONa BIC database CRO database CRO haplotype study
BRCA1 c.116G > A (p.Cys39Tyr) 5x 11x 7
BRCA1 c.181T > G (p.Cys61Gly) 239x 13x 7
BRCA1 c.676delT (p.Cys226Valfs*8) 16x 10x 9
BRCA1 c.1687C > T (p.Gln536*) 94x 12x 7
BRCA1 c.5266dupC (p.Gln1756Profs*74) 1088x 15x 9
BRCA2 c.5682C > G (p.Tyr1894*) 62x 7x 5
BRCA2 c.7806-2A > G (p.Ala2603_Arg2659del) 5x 19x 13
BRCA2 c.8878C > T (p.Gln2960*) 10x 6x 5
  1. aThe mutations are defined according to the Human Genome Variation Society guidelines; the symbol "*" indicates a predicted stop codon [46]