BRCA2 Gene

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OMIM Number

600185

NCBI Gene ID

675

Uniprot ID

P51587

Length

85,405 bases

No. of Exons

27

No. of isoforms

1

Protein Name

Breast cancer type 2 susceptibility protein

Molecular Mass

384202 Da

Amino Acid Count

3418

Genomic Location

chr13:32,314,862-32,400,266

Gene Map Locus
13q13.1

Description

BRCA2 is a tumor suppressor gene that plays a critical role in maintaining genomic stability. It is involved in double-strand break repair, homologous recombination, and centrosome duplication. Mutations in BRCA2 gene are associated with Fanconi Anemia, Complementation Group D1 and an increased risk of developing hereditary breast and ovarian cancers. BRCA2 mutations are responsible for about 25% of hereditary breast cancer. They are also associated with other types of cancers, such as prostate, gallbladder, and pancreatic cancers.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000059.3:c.*105A>CLebanonchr13:32398875BenignBenignBreast CancerNG_012772.3:g.88396A>C; NM_000059.3:c.*105A>C15869125927
NM_000059.3:c.-26G>ALebanonchr13:32316435BenignBenignBreast CancerNG_012772.3:g.5956G>A; NM_000059.3:c.-26G>A1799943125965
NM_000059.3:c.7397C>TLebanonchr13:32355250BenignBenignBreast CancerNG_012772.3:g.44771C>T; NM_000059.3:c.7397C>T; NP_000050.2:p.Ala2466Val16954752317
NM_000059.3:c.9257-1G>ALebanonNC_000013.11:g.32394688G>ALikely PathogenicPathogenicBreast CancerNG_012772.3:g.84209G>A; NM_000059.3:c.9257-1G>A8100288952792
NM_000059.4:c.10110G>ALebanonchr13:32398623BenignBenignBreast CancerNG_012772.3:g.88144G>A; NM_000059.4:c.10110G>A; NP_000050.3:p.Arg3370=2889776251043
NM_000059.4:c.1114A>CLebanonchr13:32332592BenignAssociation, BenignBreast CancerNG_012772.3:g.22113A>C; NM_000059.4:c.1114A>C; NP_000050.3:p.Asn372His1448489329
NM_000059.4:c.1151C>T Lebanonchr13:32332629BenignLikely PathogenicBreast CancerNG_012772.3:g.22150C>T; NM_000059.4:c.1151C>T ; NP_000050.3:p.Ser384Phe4129347541541
NM_000059.4:c.125A>GLebanonchr13:32319134BenignBenignBreast CancerNG_012772.3:g.8655A>G; NM_000059.4:c.125A>G; NP_000050.3:p.Tyr42Cys498704637734
NM_000059.4:c.1302_1305AAGA[2]LebanonNC_000013.11:g.32332780_32332783AAGA[2]PathogenicPathogenicBreast CancerNG_012772.3:g.22301_22304AAGA[2]; NM_000059.4:c.1302_1305AAGA[2]; NP_000050.3:p.Lys437fs8035927737737
NM_000059.4:c.1365A>GLebanonchr13:32332843BenignBenignBreast CancerNG_012772.3:g.22364A>G; NM_000059.4:c.1365A>G; NP_000050.3:p.Ser455=1801439125943
NM_000059.4:c.1627C>ALebanonNC_000013.11:g.32333105C>ALikely Benign, Uncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.22626C>A; NM_000059.4:c.1627C>A; NP_000050.2:p.His543Asn8035844651158
NM_000059.4:c.1861_1863delinsAGCLebanonNC_000013.11:g.32333339_32333341delinsAGCUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.22860_22862delinsAGC; NM_000059.4:c.1861_1863delinsAGC; NP_000050.2:p.Glu621Ser863399
NM_000059.4:c.1910-34C>A Lebanonchr13:32336231Breast CancerNG_012772.3:g.25752C>A; NM_000059.4:c.1910-34C>A966339964
NM_000059.4:c.1910-51G>T Lebanonchr13:32336214BenignBenignBreast CancerNG_012772.3:g.25735G>T; NM_000059.4:c.1910-51G>T11571651209688
NM_000059.4:c.1951G>TLebanonNC_000013.11:g.32336306G>TLikely Benign, Uncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.25827G>T; NM_000059.4:c.1951G>T; NP_000050.2:p.Asp651Tyr8035848251231
NM_000059.4:c.2229T>CLebanonchr13:32336584BenignBenignBreast CancerNG_012772.3:g.26105T>C; NM_000059.4:c.2229T>C; NP_000050.3:p.His743=1801499125979
NM_000059.4:c.223G>CLebanonchr13:32319232Benign, Likely BenignLikely PathogenicBreast CancerNG_012772.3:g.8753G>C; NM_000059.4:c.223G>C; NP_000050.3:p.Ala75Pro2889770151258
NM_000059.4:c.2254_2257delPalestineNC_000013.11:g.32336609_32336612delPathogenicLikely PathogenicProstate CancerNG_012772.3:g.26130_26133del; NM_000059.4:c.2254_2257del; NP_000050.3:p.Asp752PhefsTer198035932651260
NM_000059.4:c.262_263delUnited Arab EmiratesNC_000013.11:g.32319271_32319272delPathogenicLikely PathogenicBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.8790CT[1]; NM_000059.4:c.262_263del; NP_000050.3:p.Leu88AlafsTer1227617482551317
NM_000059.4:c.2971A>GLebanonchr13:32337326BenignBenignBreast CancerNG_012772.3:g.26847A>G; NM_000059.4:c.2971A>G; NP_000050.3:p.Asn991Asp179994441545
NM_000059.4:c.3131G>TLebanonNC_000013.11:g.32337486G>TUncertain SignificanceBreast CancerNG_012772.3:g.27007G>T; NM_000059.4:c.3131G>T; NP_000050.2:p.Cys1044Phe
NM_000059.4:c.3396A>GLebanonchr13:32337751BenignBenignBreast CancerNG_012772.3:g.27272A>G; NM_000059.4:c.3396A>G; NP_000050.3:p.Lys1132=1801406126010
NM_000059.4:c.3743G>ALebanonNC_000013.11:g.32338098G>AUncertain SignificanceBreast CancerNG_012772.3:g.27619G>A; NM_000059.4:c.3743G>A; NP_000050.2:p.Ser1248Asn1555283383
NM_000059.4:c.3762G>TUnited Arab EmiratesNC_000013.11:g.32338117G>TLikely Benign, Uncertain SignificanceUncertain SignificanceBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.27638G>T; NM_000059.4:c.3762G>T; NP_000050.3:p.Glu1254Asp777028631234481
NM_000059.4:c.3807T>CLebanonchr13:32338162BenignBenignBreast CancerNG_012772.3:g.27683T>C; NM_000059.4:c.3807T>C ; NP_000050.3:p.Val1269=543304126022
NM_000059.4:c.3971del LebanonNC_000013.11:g.32338326delPathogenicPathogenicBreast CancerNG_012772.3:g.27847del; NM_000059.4:c.3971del ; NP_000050.3:p.Tyr1324fs1593901067647777
NM_000059.4:c.4061C>TLebanonchr13:32338416Benign, Likely BenignPathogenicBreast CancerNG_012772.3:g.27937C>T; NM_000059.4:c.4061C>T; NP_000050.3:p.Thr1354Met8035865651588
NM_000059.4:c.425+147G>TLebanonchr13:32325331BenignBenignBreast CancerNG_012772.3:g.14852G>T; NM_000059.4:c.425+147G>T4942423209643
NM_000059.4:c.425+67A>C Lebanonchr13:32325251BenignBenignBreast CancerNG_012772.3:g.14772A>C; NM_000059.4:c.425+67A>C11571610126095
NM_000059.4:c.4258G>TLebanonchr13:32338613BenignLikely PathogenicBreast CancerNG_012772.3:g.28134G>T; NM_000059.4:c.4258G>T; NP_000050.3:p.Asp1420Tyr2889772741549
NM_000059.4:c.4342_4343delLebanonNC_000013.11:g.32338697_32338698delPathogenicPathogenicOvarian CancerNG_012772.3:g.28218_28219; NM_000059.4:c.4342_4343del1240291
NM_000059.4:c.4446_4451dupLebanonNC_000013.11:g.32338801_32338806dupUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.28322_28327dup; NM_000059.4:c.4446_4451dup; NP_000050.2:p.Glu1482_Thr1483dup863224826216854
NM_000059.4:c.4563A>GLebanonchr13:32338918BenignBenignBreast CancerNG_012772.3:g.28439A>G; NM_000059.4:c.4563A>G; NP_000050.3:p.Leu1521=206075132779
NM_000059.4:c.4574A>TSudan; United Arab Emi...NC_000013.11:g.32338929A>TLikely Benign, Uncertain SignificanceUncertain SignificanceBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.28450A>T; NM_000059.4:c.4574A>T; NP_000050.3:p.His1525Leu397507336838870
NM_000059.4:c.516+14C>T Lebanonchr13:32326296Benign, Likely BenignBenign, Likely BenignBreast CancerNG_012772.3:g.15817C>T; NM_000059.4:c.516+14C>T182828913132764
NM_000059.4:c.517G>TLebanonNC_000013.11:g.32326499G>TUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.16020G>T; NM_000059.4:c.517G>T; NP_000050.2:p.Gly173Cys39750776851805
NM_000059.4:c.5474C>TUnited Arab EmiratesNC_000013.11:g.32339829C>TBenign, Likely Benign, Uncertain SignificanceUncertain SignificanceBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.29350C>T; NM_000059.4:c.5474C>T; NP_000050.3:p.Ala1825Val39750735237968
NM_000059.4:c.5490C>T Lebanonchr13:32339845Likely BenignLikely BenignBreast CancerNG_012772.3:g.29366C>T; NM_000059.4:c.5490C>T ; NP_000050.2:p.Ser1830=786201459184431
NM_000059.4:c.5576_5579delLebanonchr13:32339931-32339934PathogenicPathogenicBreast CancerNG_012772.3:g.29452_29455del; NM_000059.4:c.5576_5579del; NP_000050.3:p.Ile1859fs8035952037975
NM_000059.4:c.5612G>ALebanonNC_000013.11:g.32339967G>ALikely Benign, Uncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.29488G>A; NM_000059.4:c.5612G>A; NP_000050.2:p.Ser1871Asn8035878251891
NM_000059.4:c.5645C>APalestine; United Arab...NC_000013.11:g.32340000C>APathogenicLikely PathogenicBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.29521C>A; NM_000059.4:c.5645C>A; NP_000050.3:p.Ser1882Ter8035878537984
NM_000059.4:c.5744C>TLebanonchr13:32340099BenignAssociation, BenignBreast CancerNG_012772.3:g.29620C>T; NM_000059.4:c.5744C>T; NP_000050.3:p.Thr1915Met498711741556
NM_000059.4:c.6131G>CLebanonchr13:32340486Benign, Likely BenignBenign, Likely BenignBreast CancerNG_012772.3:g.30007G>C; NM_000059.4:c.6131G>C; NP_000050.3:p.Gly2044Ala5619157938020
NM_000059.4:c.631+183T>A Lebanonchr13:32326796BenignBenignBreast CancerNG_012772.3:g.16317T>A; NM_000059.4:c.631+183T>A3752451209652
NM_000059.4:c.6322C>TLebanonchr13:32340677Benign, Likely BenignBenign, Uncertain SignificanceBreast CancerNG_012772.3:g.30198C>T; NM_000059.4:c.6322C>T; NP_000050.3:p.Arg2108Cys5579420541559
NM_000059.4:c.632-9A>G Lebanonchr13:32329434Likely BenignLikely BenignBreast CancerNG_012772.3:g.18955A>G; NM_000059.4:c.632-9A>G8100285552065
NM_000059.4:c.6513G>CLebanonchr13:32340868BenignBenignBreast CancerNG_012772.3:g.30389G>C; NM_000059.4:c.6513G>C; NP_000050.3:p.Val2171=206076132780
NM_000059.4:c.6550C>GLebanonNC_000013.11:g.32340905C>GLikely Benign, Uncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.30426C>G; NM_000059.4:c.6550C>G; NP_000050.2:p.Gln2184Glu8035888752126
NM_000059.4:c.658_659delLebanonchr13:32329469-32329470PathogenicPathogenicBreast CancerNG_012772.3:g.18990_18991del; NM_000059.4:c.658_659del; NP_000050.3:p.Val220fs803596049342
NM_000059.4:c.65C>TLebanonchr13:32316525Uncertain SignificanceBreast CancerNG_012772.3:g.6046C>T; NM_000059.4:c.65C>T; NP_000050.3:p.Ala22Val
NM_000059.4:c.670G>ALebanonNC_000013.11:g.32329481G>ALikely Benign, Uncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.19002G>A; NM_000059.4:c.670G>A; NP_000050.2:p.Asp224Asn876660484233552
NM_000059.4:c.6726T>ALebanonNC_000013.11:g.32341081T>AUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.30602T>A; NM_000059.4:c.6726T>A; NP_000050.2:p.Asp2242Glu952809
NM_000059.4:c.674delLebanonNC_000013.11:g.32329485delPathogenicPathogenicBreast CancerNG_012772.3:g.19006del; NM_000059.4:c.674del; NP_000050.3:p.Thr225fs886038054254480
NM_000059.4:c.681+56C>TLebanonchr13:32329548BenignBenignBreast CancerNG_012772.3:g.19069C>T; NM_000059.4:c.681+56C>T2126042126192
NM_000059.4:c.6841+80_6841+83delTTAALebanonchr13:32341276-32341279BenignBenignBreast CancerNG_012772.3:g.30797_30800del; NM_000059.4:c.6841+80_6841+83delTTAA11571661126122
NM_000059.4:c.6842G>AUnited Arab EmiratesNC_000013.11:g.32344558G>AUncertain SignificanceUncertain SignificanceBreast Cancer; Breast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.34079G>A; NM_000059.4:c.6842G>A; NP_000050.3:p.Gly2281Glu80358908926077
NM_000059.4:c.6938-120T>CLebanonchr13:32346707BenignBenignBreast CancerNG_012772.3:g.36228T>C; NM_000059.4:c.6938-120T>C206080209939
NM_000059.4:c.7006C>TUnited Arab EmiratesNC_000013.11:g.32346895C>TBenign, Likely Benign, Uncertain SignificanceLikely PathogenicBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.36416C>T; NM_000059.4:c.7006C>T; NP_000050.3:p.Arg2336Cys43182534796845
NM_000059.4:c.7007+273G>A Lebanonchr13:32347169BenignBenignBreast CancerNG_012772.3:g.36690G>A; NM_000059.4:c.7007+273G>A11571681209718
NM_000059.4:c.7007G>AIraq; Saudi ArabiaNC_000013.11:g.32346896G>APathogenicLikely Pathogenic, PathogenicGlioma Susceptibility 3; Breast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.36417G>A; NM_000059.4:c.7007G>A; NP_000050.3:p.Arg2336His2889774338077
NM_000059.4:c.7242A>GLebanonchr13:32355095BenignBenignBreast CancerNG_012772.3:g.44616A>G; NM_000059.4:c.7242A>G; NP_000050.3:p.Ser2414=1799955126133
NM_000059.4:c.7415A>GLebanonNC_000013.11:g.32355268A>GUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.44789A>G; NM_000059.4:c.7415A>G; NP_000050.3:p.Lys2472Arg803589631329032
NM_000059.4:c.7435+53C>TLebanonchr13:32355341BenignBenignBreast CancerNG_012772.3:g.44862C>T; NM_000059.4:c.7435+53C>T11147489126136
NM_000059.4:c.752C>GLebanonNC_000013.11:g.32330989C>GUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.20510C>G; NM_000059.4:c.752C>G; NP_000050.2:p.Thr251Arg587781513141126
NM_000059.4:c.7558C>TUnited Arab EmiratesNC_000013.11:g.32356550C>TPathogenicLikely PathogenicProstate CancerNG_012772.3:g.46071C>T; NM_000059.4:c.7558C>T; NP_000050.3:p.Arg2520Ter8035898152353
NM_000059.4:c.7625C>TLebanonchr13:32357749Likely BenignLikely PathogenicFanconi Anemia, Complementation Group D1NG_012772.3:g.47270C>T; NM_000059.4:c.7625C>T; NP_000050.3:p.Thr2542Met8035898996854
NM_000059.4:c.7669G>ALebanonNC_000013.11:g.32357793G>AUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.47314G>A; NM_000059.4:c.7669G>A; NP_000050.2:p.Ala2557Thr876658624230545
NM_000059.4:c.7806-14T>CLebanonchr13:32362509BenignBenignBreast CancerNG_012772.3:g.52030T>C; NM_000059.4:c.7806-14T>C9534262126158
NM_000059.4:c.8023A>GUnited Arab EmiratesNC_000013.11:g.32363225A>GPathogenicLikely PathogenicBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.52746A>G; NM_000059.4:c.8023A>G; NP_000050.3:p.Ile2675Val39750795452475
NM_000059.4:c.8052_8053dupLebanonchr13:32363254_32363255dupPathogenicPathogenicBreast CancerNG_012772.3:g.52775_52776dup; NM_000059.4:c.8052_8053dup; NP_000050.3:p.Thr2685fs397507958495101
NM_000059.4:c.8117A>GUnited Arab EmiratesNC_000013.11:g.32363319A>GBenign, Likely Benign, Uncertain SignificanceNG_012772.3:g.52840A>G; NM_000059.4:c.8117A>G; NP_000050.3:p.Asn2706Ser8035905538139
NM_000059.4:c.8377G>ALebanonNC_000013.11:g.32370447G>ALikely Pathogenic, Pathogenic, Uncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.59968G>A; NM_000059.4:c.8377G>A; NP_000050.2:p.Gly2793Arg8035908252569
NM_000059.4:c.8398C>ALebanonNC_000013.11:g.32370468C>AUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.59989C>A; NM_000059.4:c.8398C>A; NP_000050.2:p.Pro2800Thr80359086462479
NM_000059.4:c.865A>CLebanonchr13:32332343BenignBenignBreast CancerNG_012772.3:g.21864A>C; NM_000059.4:c.865A>C; NP_000050.3:p.Asn289His76617341567
NM_000059.4:c.8755-66T>C Lebanonchr13:32379251BenignBenignBreast CancerNG_012772.3:g.68772T>C; NM_000059.4:c.8755-66T>C4942486126190
NM_000059.4:c.8775G>CLebanonchr13:32379337Uncertain SignificanceBreast CancerNG_012772.3:g.68858G>C; NM_000059.4:c.8775G>C; NP_000050.3:p.Gln2925His8035913652678
NM_000059.4:c.8782G>TAlgeriaNC_000013.11:g.32379344G>TUncertain SignificanceUncertain SignificanceBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.68865G>T; NM_000059.4:c.8782G>T; NP_000050.3:p.Ala2928Ser587781762141459
NM_000059.4:c.8851G>ALebanonchr13:32379413BenignBenignBreast CancerNG_012772.3:g.68934G>A; NM_000059.4:c.8851G>A; NP_000050.3:p.Ala2951Thr1157176941570
NM_000059.4:c.8953+53C>G Lebanonchr13:32379568Breast CancerNG_012772.3:g.69089C>G; NM_000059.4:c.8953+53C>G1158257180
NM_000059.4:c.9104A>CUnited Arab EmiratesNC_000013.11:g.32379900A>CBenign, Likely Benign, Uncertain SignificanceUncertain SignificanceBreast-Ovarian Cancer, Familial, Susceptibility To, 2NG_012772.3:g.69421A>C; NM_000059.4:c.9104A>C; NP_000050.3:p.Tyr3035Ser8035916538211
NM_000059.4:c.9152delSaudi ArabiaNC_000013.11:g.32380041delPathogenicPathogenicGlioma Susceptibility 3NG_012772.3:g.69562del; NM_000059.4:c.9152del; NP_000050.3:p.Pro3051HisfsTer11587779349127241
NM_000059.4:c.9257-16T>C Lebanonchr13:32394673BenignBenignBreast CancerNG_012772.3:g.84194T>C; NM_000059.4:c.9257-16T>C1157181852790
NM_000059.4:c.9613_9614delinsCTLebanonNC_000013.11:g.32397009_32397010delinsCTLikely Benign, Uncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.86530_86531delinsCT; NM_000059.4:c.9613_9614delinsCT; NP_000050.2:p.Ala3205Leu27617492652875
NM_000059.4:c.9628G>ALebanonNC_000013.11:g.32397024G>AUncertain SignificanceUncertain SignificanceBreast CancerNG_012772.3:g.86545G>A; NM_000059.4:c.9628G>A; NP_000050.2:p.Gly3210Ser1064794491420462
NM_000059.4:c.9976A>TLebanonchr13:32398489BenignBenignBreast CancerNG_012772.3:g.88010A>T; NM_000059.4:c.9976A>T; NP_000050.3:p.Lys3326Ter1157183338266

Other Reports

Arab

A study conducted by El-Harith et al. (2002) in a cohort of 29 Arab and 11 Asian women, identified two BRCA2 heterozygous mutations – novel 2482delGACT and unclassified Asp1420Tyr – in three patients. In addition, six common BRCA2 polymorphisms were detected in both Arab and Asian women at similar allele frequencies.

Palestine

El-Harith et al. (2002) uncovered a novel BRCA2 truncating mutation (2482delGACT) in a 68 year-old Arab patient of Palestinian descent. This mutation is a 4-nucleotide deletion that creates a stop signal at codon 770 of the BRCA2 transcript.

Saudi Arabia

Ghazwani et al. (2016) carried out a review of Fanconi anemia (FA) patients at a Saudi Arabian hospital.  Ten patients from consanguineous families were included in the study and a genetic analysis was carried out to determine underlying mutations. Two patients, a boy aged 2-years and a girl of 6-months, were found to have a homozygous c.7007G>A mutation in the BRCA2 gene. This mutation was not found in 50 Saudi Arabian non-FA controls. Both patients showed a similar phenotype of microcephaly, café au lait spots, hypopigmentation, abnormal ears and a short neck. The boy suffered from testicular embryonal rhabdomyosarcoma and T cell acute lymphoblastic leukemia while the girl had stage 4 neuroblastoma. Both patients also had a strong family history of cancer. The fact that both patients belonged to the same tribe supported the possibility of a founder mutation or hotspot. The study also noted that, compared to European patients, most of the identified mutations were in downstream FA pathway genes, rendering the FANCD2 protein monoubiquitination assay ineffective in diagnosing most Saudi cases of FA.  

United Arab Emirates

Denic and Al-Gazali (2002) examined the consequences of the long-term practice of consanguineous marriage on the prevalence of lethal cancer genes. They proposed that in a randomly mating population, the BRCA1/BRCA2 carrier rate decreases on average 0.0035% every 25 years, whereas, in a highly consanguineous population, the carrier rate decreases on average 0.022% every 25 years, six times faster than in a non-consanguineous population.

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified five Emirati patients with pathogenic variants in the BRCA2 gene. An additional three Emurati were found to have variants of uncertain significance in the same gene.  

Yemen

Lerer et al. (1998) described 8765delAG BRCA2 mutation in breast/ovarian cancer patients from three unrelated Jewish families of Yemenite origin. Lerer et al. (1998) further analyzed 8765delAG BRCA2 gene mutation in three different groups. The first group included nine breast cancer patients of Yemenite origin without a family history of breast or ovarian cancers. None were found to be a carrier. The second group consisted of 140 healthy individuals of Yemenite origin with one carrier identified. The last group studied comprised 41 Jewish breast cancer patients of which there were no carriers supporting the idea that 8765delAG BRCA2 is limited to Yemenite Jews. Lerer et al. (1998) concluded that the 8765delAG BRCA2 gene alteration is a founder mutation in Yemenite Jews.

[See also: Breast Cancer Gene 1 > Arab, Yemen].

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