. 2017 Jul 5;7:4713. doi: 10.1038/s41598-017-05056-y

Table 2.

Small-range mutations and large genomic rearrangements in the BRCA1/2 genes in Colombian breast/ovarian cancer families.

Family	Gene	Mutation Nomenclature			Classification^c	No. of BIC Entries^b
Family	Gene	BIC^a: genomic level	HGVS^b: genomic level	HGVS^b: protein level	Classification^c	Total^d	with Hispanic ancestry^e
Deleterious small-range mutations
295	BRCA1	1793delA	c.1674delA	p.Gly559fs	M	6	5
291,409	BRCA2	1991del4	c.1763_1766delATAA	p.Asn588fs	M	5	1
382	BRCA2	2929delC	c.2701delC	p.Ala902fs	M	^f	1
55/648^g	BRCA2	6252insG	c.6024dupG	p.Gln2009fs	M	2	2
399	BRCA2	6306delAA	c.6078_6079delAA	p.Glu2028fs	M	3	1
282	BRCA2	6310delGA	c.6082_6083delGA	p.Glu2028fs	M	2	1^j
Sequence variants of no or uncertain clinical significance
644	BRCA2	451G > C	c.223G > C	p.Ala75Pro	benign	52	8
643	BRCA2	IVS4 − 37T > A	c.426 − 37T > A	—	VUS	2	1
23,639	BRCA2	IVS13 − 62A > G	c.7008 − 62A > G	—	benign/VUS	6	1
237	BRCA2	IVS14 + 53C > T	c.7435 + 53C > T	—	benign	39	1
430	BRCA2	IVS19+15T> C	c.8487+15T> C	—	benign^h	Novel	1^l
558	BRCA2	IVS21 − 19A > G	c.8755 − 19A > G	—	VUS	ⁱ	1
31,92,482,545	BRCA2	IVS24 − 83G > A	c.9257 − 83 G > A	—	benign	3	1
485	BRCA2	IVS24 − 143T > A	c.9257 − 143T > A	—	benign	^j	1
Large genomic rearrangements
0055,1465	BRCA2/ex1-14del^k				M	Novel	1^l

^aBIC, Breast Cancer Information Core database as of October 2016 (https://research.nhgri.nih.gov/bic/).

^bNomenclature follows Human Genome Variation Society (HGVS) (https://www.hgvs.org/). Numbering starts at the first A of the first coding ATG. (located in exon 2) of NCBI GenBank Accession NM_007294.3 (BRCA1) and NM_000059.3 (BRCA2).

^cM, deleterious mutation; VUS, variant of uncertain clinical significance.

^dIncluding those with ancestry data and those from the present study.

^eThe term “Hispanic” was used for individuals of Spanish, Mexican, Central and South American, Cuban, or Puerto Rican descent.

^fReported in one multiple case breast cancer family from Spain (in Miramar MD, et al. Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families. from Aragon (Spain). Breast Cancer Res Treat 2008;112(2):353-8, p353).

^gTwo probands in family 55/648.

^hClassification based on in silico analyses.

ⁱThree times reported in NCBI.

^jOnce reported in NCBI.

^kThe deletion breakpoints were not determined.

^lIdentified in the present study.