Table 2.

Details of BRCA1/2 mutations identified in the Irish cohort

Gene	Age	Stage	Exon	Mutation (HGVS cDNA)	Protein (HGVS protein)	Mutation type
BRCA1	50	3	10	c.1808C>A	p.Ser603*	Nonsense
	37	3	11	c.2418del	p.Ala807Hisfs*8	Frameshift
	40	3	11	c.962G>A	p.Trp321*	Nonsense
	65	3	3	del exon 3		Large genomic rearrangement
	49	4	2	c.68_69del	p.Glu23Valfs*17	Frameshift
BRCA2	57	3	10	c.1310_1313del	p.Lys437llefs*22	Frameshift
	57	3	11	c.3570del	p.Lys1191Serfs*6	Frameshift
	55	3	11	c.3717del	p.Lys1239Asnfs*20	Frameshift
	61	3	11	c.4638del	p.Phe1546Leufs*22	Frameshift
	66	2	11	c.4712_4713del	p.Glu1571Glyfs*3	Frameshift
	59	3	11	c.5073dupA	p.Trp1692Metfs*3	Frameshift
	71	1	11	c.5101C>T	p.Gln1701*	Nonsense
	49	1	11	c.6486_6489del	p.Lys2162Asnsf*5	Frameshift
	74	3	11	c.6486_6489del	p.Lys2162Asnsf*5	Frameshift
	53	3	11	c.6486_6489del	p.Lys2162Asnsf*5	Frameshift
	43	3	11	c.6486_6489del	p.Lys2162Asnsf*5	Frameshift
	54	3	2	c.19G>T	p.Glut7*	Nonsense
	55	4	7	c.631+1G>A	Unknown	Splice variant

HGVS, Human Genome Variation Society.