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

Table 4.

Frequencies of the four small-range BRCA1/2 founder mutations in unselected breast cancer patients and controls from Col-BCCC.

Gene	Mutation Nomenclature			No. of Mutations (%) in Cases (n = 1,022)	No. of Mutations (%) in Controls (n = 1,023)
Gene	BIC^a: genomic level	HGVS^b: genomic level	HGVS^b: protein level	No. of Mutations (%) in Cases (n = 1,022)	No. of Mutations (%) in Controls (n = 1,023)
BRCA1	3450del4	c.3331_3334delCAAG	p.Gln1111fs	34 (3.3)	0 (0)
BRCA1	A1708E	c.5123C > A	p.Ala1708Glu	22 (2.2)	0 (0)
BRCA2	1991del4	c.1763_1766delATAA	p.Asn588fs	4 (0.4)	0 (0)
BRCA2	3034del4	c.2808_2811delACAA	p.Ala938fs	11 (1.1)	0 (0)
Total no. of mutations				71 (7.0)	0 (0)

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

^bHGVS, Human Genome Variation Society (https://www.hgvs.org/).