Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

Table 4 Common BRCA ½ mutation found in multiple Central and South American countries

Mutation in BRCA 1						Frequency of recurrent mutation (%)
Exon	Mutation	Country	Hereditary	Early-onset BC	Unselected BC	Hereditary BC	Early-onset BC	Unselected BC
2	c.68_69delAG	Argentina	✔
		Brazil	✔			0.33%
		Chile	✔			0.6%
		Mexico			✔
		Peru			✔			2.6%
5	c.181T>G	Argentina	✔			0.64%
		Brazil		✔
		Chile	✔
5	c.211A>G	Argentina	✔			1.17%
		Brazil	✔
		Mexico	✔		✔
		Peru			✔
11	c. 798_799delTT	Argentina	✔
11	c. 798_799delTT	Mexico			✔
11	c.815_824dupAGCCATGTGG	Mexico			✔
11	c.815_824dupAGCCATGTGG	Peru			✔
11	c.2568T>G	Argentina	✔
11	c.2568T>G	Uruguay	✔
11	c.3228_3229delAG	Argentina	✔
11	c.3228_3229delAG	Brazil			✔
11	c. 3331_3334delCAAG	Brazil	✔
		Chile	✔			0.9%
		Colombia	✔		✔	9.4%		1.6%/11.4%^a
11	c. 3858_3861delTGAG	Mexico	✔		✔
11	c. 3858_3861delTGAG	Peru			✔
11	c. 3858_3861delTGAG	Chile	✔
11	c. 3858_3861delTGAG	Mexico			✔
11	c. 4065_4068delTCAA	Mexico			✔
11	c. 4065_4068delTCAA	Peru			✔
13	c.4327>T	Argentina	✔
13	c.4327>T	Mexico		✔	✔			0.25%
18	c. 5123C>A	Argentina	✔
		Brazil	✔
		Colombia	✔		✔	5.7%		1.3%
		Mexico	✔	✔	✔			0.5%
20	c.5266up C	Argentina	✔
20	c.5266up C	Brazil	✔	✔	✔	2.5%/0.65%/5%^a	3.7%	1.2%
Mutation in BRCA 2
3	c.145G>T	Argentina	✔
		Chile	✔			3.7%
		Mexico	✔
11	c.2808_2811 delACAA	Argentina	✔			0.64%
		Brazil	✔	✔
		Colombia	✔		✔	3.8%		1.3%
		Mexico	✔		✔
		Peru			✔			0.75%
		Venezuela	✔
11	c.3264d up T	Argentina	✔
11	c.3264d up T	Mexico	✔
11	c.4740_4741insTG	Argentina	✔
11	c.4740_4741insTG	Chile	✔			0.6%
11	c.5351dup A	Argentina	✔
11	c.5351dup A	Uruguay	✔
11	c. 5946delT	Argentina	✔
		Brazil			✔
		Chile	✔
		Costa Rica	✔
11	c.6024dup G	Argentina	✔
		Colombia			✔
		Mexico			✔

ISSN: 0717-6287