A role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population

BMC Cancer

Table 2 BRCA1 and BRCA2 pathogenetic mutations^a

N° of positive families	GENE	EXON	DNA LEVEL	PROTEIN LEVEL	Mutation type	BIC
1	BRCA1	5	c.300 T>G	p.Cys61Gly	missense	YES
3	BRCA1	11	c.916_917delTT	p.Val266SerfsX19	frameshift	YES
1	BRCA1	11	c.1099_1100delCA	p.Thr327fsX1	frameshift	YES
1	BRCA1	11	c.1499insA	p.Phe461fsX18	frameshift	YES
2	BRCA1	11	c.1632 A>T	p.Lys505X	non sense	NO
1	BRCA1	11	c.1638 A > T	p.Arg507X	non sense	NO
2	BRCA1	11	c.3823_3826delACAA	p.Asn1235fsX27	frameshift	NO
1	BRCA1	14	c.4575delA	p.Ser1486fsX18	frameshift	NO
7	BRCA2	11	c.3950_3952delTAGinsAT	p.Phe1241fsX17	frameshift	NO
1	BRCA2	11	c.6586 C>G	p.Ser2120X	non sense	NO
1	BRCA2	11	c.6023_6024delTA	p.His1932X12	frameshift	YES
13	BRCA2	20	c.8764_8765delAG	p.2846X22	frameshift	YES
1	BRCA2	18	c.8559+1G>T	-	splicing	YES

^a Consensus nomenclature of mutations according to den Dunnen and Antonarakis [22]. Mutations refer to the GenBank accession #BRCA1: no. U14680 and BRCA2: no. NM_000059).

ISSN: 1471-2407