Table 1. Mutations detected in BRCA1 and BRCA2 in Colombia and their clinical relevance according to NCBI (NIH-BIC and ClinVar). Pathogenic mutations as reported in international databases appear in bold.

	Patients	%	Mutation registry (BIC)	Mutation registry (ClinVar)
BRCA1*
3450 delCAAG**	13	18.8	Class 5	Pathogenic
A1708E**	27	39.1	Pending	Pathogenic
G3031A	1	1.4	NR	NR
T3014C	1	1.4	NR	NR
C5214T	1	1.4	Pending	Pathogenic
1163 delTG	1	1.4	NR	NR
C5141T	3	4.3	NR	NR
1793 delA	4	5.8	Class 5	Pathogenic
5221 delTG	1	1.4	Class 5	Pathogenic
5221 delT	1	1.4	NR	NR
5637 delG	1	1.4	NR	NR
C39R (234 T>C)	2	2.9	Pending	NR
W1508X (4642 G>A)	1	1.4	Class 5	Pathogenic
5154 delTTTTC	1	1.4	Class 5	NR
E720X (2277G>T)	1	1.4	Class 5	NR
N1742S	1	1.4	NR	Uncertain
2881 delGACA	1	1.4	NR (report: 2883 delACAG)	NR
1499 insA	1	1.4	Class 5	Pathogenic
V1145F	2	2.9	NR	NR
2031 delG	1	1.4	Class 5	Pathogenic
K168E	1	1.4	NR	NR
5356 delT	1	1.4	NR	NR
R1835X (5622 C>T)	1	1.4	Pending	Pathogenic
W1712X (5255G>A)	1	1.4	Class 5	Pathogenic
Total	69	63.9
BRCA2***
3034 delACAA**	8	21.1	Class 5	Pathogenic
6076 delGTTA**	1	2.6	Class 5	Pathogenic
6503 delTT**	0	0.0	Class 5	Pathogenic
W31X**	0	0.0	Pending	NR
T289A	1	2.6	NR	NR
C6448A	1	2.6	Pending	Benign
C3046T	1	2.6	Class 5	Pathogenic
V572L	1	2.6	NR	Uncertain
P218L	1	2.6	NR	NR
C6328T	3	7.9	Pending	Benign
T10K	1	2.6	NR	Uncertain
2929 delC	1	2.6	NR	Benign
3154 TC>AT	1	2.6	Pending	NR
C5972T	11	28.9	Class 1	Benign
T1011R (3260C>G)	1	2.6	Pending	Conflicting interpretations
4772 delA	1	2.6	NR	NR
6310 delGA	1	2.6	NR (report: 6310 delGAAGA)	Benign
A5996C	1	2.6	Pending	Conflicting interpretations
6062 insG	1	2.6	NR	NR
S1630X (5117C>G)	1	2.6	Class 5	NR
N570S (1937A>G)	1	2.6	NR	Uncertain
Totasl	38	35.5

* 22 new mutations in Colombia

** Profile Colombia

*** 17 new mutations in Colombia