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Table 1 Recurrent pathogenic and likely pathogenic BRCA2 variants of Jordanian patients with breast cancer

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

Gene

Exon

Variant nomenclature (as appeared in reference report)

Variant nomenclature acc. to HGVS designationb

Variant type

Variant class

Frequency in the 2 largest published Jordanian cohorts, compared to total numbers (N) of identified BRCA2 variants in each report

Ethnicities/Nationalities where variants have been previously reported

A cohort of 616 young patients [26] from KHCC

(N = 55)

A cohort of 500 HR patients [28] from KHCC

(N = 48)

A cohort of 192 HR patients from MoH [23]

(N = 8)

BRCA2

11

2482del4 [27], c.2254_2257del (p.Asp752Phefs) [23, 25, 26, 28]

c.2254_2257del p.(Asp752Phefsa19)

fs

P*

11

8

2

Palestinian [33, 35]

BRCA2

11

c.2254_2257del (p.Asp752Phefs)

co-occurring with c.5351dup (p.Asn1784Lysfs) [25, 26, 28]

c.2254_2257del p.(Asp752Phefsa19) and c.5351dup p.(Asn1784Lysfsa3)

NM_000059.4:c. 2254_2257del(;) 5351dup

fs

P*

5

6

0

Novel [32,33,34,35,36,37]

BRCA2

5–11

Exon 5–11 duplication [25, 26, 28], dup exons 5–11(5’)[27]

Exon 5–11 duplication; c.(425 + 1_426-1)_(6841 + 1_6842-1)dup p?

large dup

P

8

5

0

Christian Palestinians [33, 35, 38]

BRCA2

11

c.6685G > T (p.Glu2229Ter) [25, 26, 28] 6913G > T/E2229X [27]

c.6685G > T p.(Glu2229a)

ns

P*

3

3

0

Palestinian [42], and Jordanian [43]

BRCA2

10

1461insA [27]

c.1233dup (p.Pro412Thrfs) [25, 26, 28]

c.1233dup p.(Pro412Thrfsa9)

fs

P*

5

3

0

European [33, 35]

BRCA2

Intron 24

c.9257-1G > A [25, 26, 28]

IVS24-1 G > A [27]

c.9257-1G > A p.?

sp

P*

2

2

0

Western European [33, 35]

BRCA2

11

c.6486_6489del p.Lys2162Asnfs [26, 28]

c.6486_6489del p.(Lys2162Asnfsa5)

fs

P*

2

2

0

Western European [33, 35]

BRCA2

11

c.4222_4223del (p.Gln1408Argfsa5) [26, 28]

c.4222_4223del p.(Gln1408Argfsa5)

fs

LP

2

0

0

Novel [32,33,34,35,36,37]

BRCA2

11

c.6627_6634del (p.Ile2209Metfs) [26, 28]

c.6627_6634del p.(Ile2209Metfsa13)

fs

P*

2

0

0

Jordanian [43, 44], Palestinians, [45] and non-Jewish Israeli [46]

BRCA2

22

c.8878C > T (p.Gln2960Ter) [25, 26, 28]

c.8878C > T p.(Gln2960a)

ns

P*

2

0

0

Multiple Ethnicities [35]

  1. Abbreviations: KHCC King Hussein Cancer Center, MoH Ministry of health, HR High risk, R Reference number, N total number of identified BRCA2 events in a certain reference, fs frameshift, ns nonsense, sp splice variant, large dup large duplication, P pathogenic, LP likely pathogenic
  2. aClinVar classification
  3. bcDNA refseq: NM_000059.4 (MANE Select)
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287