Novel mutations in the BRCA1 and BRCA2genes in Iranian women with early-onset breast cancer

Breast Cancer Research

Table 2 Germline mutations in the BRCA2 gene

Exon	Mutation and nucleotide change	Stop codon at amino acid	Coding effect	Screening method	Family history	Age at diagnosis (years)
11^*	6261–6262 insGT	2040 (TAA)	Frameshift	PTT	2 BC <40	27
11	3979–3980 insA	1264 (TAA)	Frameshift	PTT	Negative	40
11	5972 C>T T1915M	-	Missense	DS	Negative	41
17^†	IVS16-14T>C IVS16-6T>G	-	Close to splice site	SSCP/HA	n.a.	n.a.
18	8345A>G N2706S	-	Missense	SSCP/HA	Negative	38
23	9266C>T T3013I	-	Missense	SSCP/HA	Negative	31

^*This patient has also BRCA1-IVS20+48 dup GTATTCCACTCC. ^†This common polymorphism was detected in both Iranian and British populations. BC, breast cancer (early-onset ages are also shown); DS, direct sequencing; HA, heteroduplex analysis; n.a., not applicable; PTT, protein truncation test; SSCP, single-strand conformation polymorphism assay.

ISSN: 1465-542X