BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel

Table 2 Recurrent pathogenic and likely pathogenic BRCA1 variants of Jordanian patients with breast cancer

Gene	Exon	Variant nomenclature (as appeared in reference report)	Variant nomenclature acc. to HGVS designation^b	Variant type	Variant class	Frequency in the largest 2 published Jordanian cohorts, as compared to total number (N) of identified *BRCA1* events in each report			Ethnicities/Nationalities where variants have been previously reported in the literature
Gene	Exon	Variant nomenclature (as appeared in reference report)	Variant nomenclature acc. to HGVS designation^b	Variant type	Variant class	A cohort of 616 young patients from KHCC [26] (N = 25)	A cohort of 500 HR patients from KHCC [28] (N = 24)	A cohort of 192 HR patients from MoH [23] (N = 8)
*BRCA1*	2	c.66dup (p.Glu23Argfs) [26] c.66dup (p.Glu23Arg)^c [28]	c.66dup p.(Glu23Argfs^a18)	dup	P^a	1	5	0	Multiple Ethnicities [35, 44]
*BRCA1*	12	c.4117G > T (p.Glu1373Ter) [25, 26, 28] E1373X [27]	c.4117G > T p.(Glu1373Ter)	ns	P^a	4	3	0	Multiple Ethnicities [35, 44]
*BRCA1*	Intron 17	c.5074 + 3A > G/ IVS17 + 3A > G [25, 26, 28]	c.5074 + 3A > G p.?	sp	P/LP^a	3	3	0	Multiple Ethnicities [35, 44]
*BRCA1*	3	c.121C > T (p.His41Tyr) [25, 26, 28]	c.121C > T p.(His41Tyr)	ms	P/LP^a	1	2	2	Multiple Ethnicities [35, 44]
*BRCA1*	18	c.5123C > A (p.Ala1708Glu) [25, 26, 28]	c.5123C > A p.(Ala1708Glu)	ms	P^a	2	2	0	Founder variant of Spanish [39], Sephardic Jews [40] and Hispanics [41]
*BRCA1*	11	c.4065_4068del (p.Asn1355Lysfs) [25, 26, 28]	c.4065_4068del p.(Asn1355Lysfs^a10)	fs	P^a	2	2	2	Multiple Ethnicities [35, 44]

Abbreviations: KHCC King Hussein Cancer Center, MoH Ministry of health, HR High risk, R Reference number, N total number of identified BRCA1 events in a certain reference, dup duplication, fs frameshift, ns nonsense, ms missense, sp splice variant, P pathogenic, LP likely pathogenic
^aClinVar classification
^bcDNA refseq: NM_007294.4 (MANE Select)
^cthis is how the nomenclature of the protein appeared in reference 28, however, we believe it was a typing mistake, since this is a fs variant, as also was mentioned in reference 26 from the same group of Abdel-Razeq et al

ISSN: 1897-4287