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

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

GENE	MUTATION^a	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

^aThe mutations are defined according to the Human Genome Variation Society guidelines; the symbol "*" indicates a predicted stop codon [46]

ISSN: 1471-2350