Table 1.

Families analysed and characteristics of mutations, including the classification according to mutation position

Gene	Family	Mutationa	Type	Nucleotide	Codon	Codon stop	A	B	C
BRCA1	46,61,78,85	c.211A>G	S	211	71	64	1	1	1
BRCA1	57	c.671-?_4675+?del	LR	671	224		1	1	1
BRCA1	41	c.798_799delTT	FS	798	266	285	1	1	1
BRCA1	81	c.2017G>T (p.E673X)	N	2017	673	673	1	1	2
BRCA1	77	c.3257T>G (p.L1086X)	N	3257	1086	1086	1	2	2
BRCA1	86,92	c.3331_3334delCAAG	FS	3331	1111	1115	1	2	2
BRCA1	50	c.4161_4162delTC	FS	4161	1387	1389	1	2	2
BRCA1	6	c.5117G>A (p.G1706E)	M	5117	1706		2	3	3
BRCA1	40,80	c.5123C>A (p.A1708E)	M	5132	1708		2	3	3
BRCA1	47	c.5153-1G>A	S	5153	1718	1729	2	3	2
BRCA1	79	c.5418delA	FS	5418	1806	1833	2	3	2
BRCA2	99	c.2701delC	FS	2701	901	903	2	2	1
BRCA2	37	c.2774_2775insT	FS	2774	925	935	2	2	1
BRCA2	7	c.2808_2811delACAA	FS	2808	936	958	2	2	1
BRCA2	90	c.4133_4136delCTCA	FS	4133	1378	1386	1	1	2
BRCA2	104	c.4935_4938delGAAA	FS	4935	1646	1668	1	1	2
BRCA2	38	c.5042_5043delTG	FS	5042	1681	1687	1	1	2
BRCA2	103	c.5116_5119delAATA	FS	5116	1706	1710	1	1	2
BRCA2	1	c.5141_5144delATTT	FS	5141	1714	1723	1	1	2
BRCA2	51	c.5146_5149delTATG	FS	5146	1716	1723	1	1	2
BRCA2	58	c.5576_5579delTTAA	FS	5576	1859	1861	1	1	2
BRCA2	43,89	c.6275_6276delTT	FS	6275	2092	2099	1	1	2
BRCA2	64,84	c.7007G>A (Exon12-13del)	FS	7007	2336	2311	2	2	2
BRCA2	102	c.7601+1G>A	S	7601			2	2	2
BRCA2	3	c.8167G>C (p.D2723H)	M	8167	2723		2	2	3
BRCA2	26,91	c.9026_9030del5	FS	9026	3009	3015	2	2	2

S splicing mutation, LR large rearrangements, FS frame-shift mutation, N nonsense mutation, M missense mutation, A classification A, B classification B, C classification C (see text)

^aMutations have been reported in Beristain et al 2007 and Beristain et al. 2009