Table 4.

Large genomic rearrangements in BRCA1/2.

Gene	Mutation	Cases	Brazil	Colombia	Mexico	Peru	Puerto Rico	Uruguay	References
BRCA1	exon 1-2 deletion	3	✔				✔		[60,63,106]
BRCA1	exon 3 deletion	2	✔						[60,63]
BRCA1	exon 4-6 deletion	2	✔						[60,63]
BRCA1	exon 5-7 deletion	2	✔						[53,60]
BRCA1	exon 8 deletion	2	✔						[60,63]
BRCA1	exon 8-13 deletion	1				✔			[104]
BRCA1	exon 9-11 deletion	1			✔				[80]
BRCA1	exon 9-12 deletion	25			✔				[80,81,84,88]
BRCA1	exon 9-19 deletion	2	✔						[41,60]
BRCA1	exon 12 deletion	1			✔				[80]
BRCA1	exon 14 deletion	1						✔	[109]
BRCA1	exon 14-16 deletion	1	✔						[60]
BRCA1	exon 16-17 deletion	2	✔						[60,65]
BRCA1	exon 18-19 deletion	2	✔			✔			[60,104]
BRCA1	exon 19 deletion	1	✔						[60]
BRCA1	exon 21-23 deletion	1	✔						[60]
BRCA1	exon 24 duplication	1	✔						[65]
BRCA1	6-KB DUP EX13	7	✔						[51]
BRCA2	exon 1 deletion	3			✔				[80]
BRCA2	exon 1-14 deletion	2		✔					[94]
BRCA2	exon 2 deletion	1	✔						[60]
BRCA2	exon 11 deletion	1			✔				[80]
BRCA2	exon 13 deletion	1	✔						[60]
BRCA2	exon 14 deletion	1	✔						[60]
BRCA2	exon 15-16 deletion	1		✔					[92]
BRCA2	exon 17 deletion	1			✔				[80]
BRCA2	exon 22-24 deletion	2			✔				[80]
BRCA2	exon 23 deletion	2			✔				[80]
BRCA2	exon 25 deletion	1	✔						[60]
BRCA2	exon 26 deletion	1			✔				[80]
BRCA2	g.26826_30318del	2	✔						[35,64]