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Table 3 Candidate breast cancer genetic risk factors

From: Characterization of familial breast cancer in Saudi Arabia

Chr. Position Gene Name Refseq Nucleotide change Amino acid change
9 133748391 ABL1 NM_007313 c.1109T>C p.Met370Thr
4 41015755 APBB2 NM_001166050 c.680C>G p.Ser227*
5 112157653 APC NM_001127511 c.1319T>C p.Phe440Ser
5 112175675 APC NM_001127511 c.4330A>G p.Lys1444Glu
X 55028750 APEX2 NM_014481 c.308T>G p.Phe103Cys
2 68740731 APLF NM_173545 c.541G>A p.Glu181Lys
9 32987778 APTX NM_001195249 c.247C>A p.Pro83Thr
7 97498324 ASNS NM_133436 c.145C>T p.Arg49Trp
3 48506356 ATRIP NM_032166 c.2101C>T p.His701Tyr
12 56994493 BAZ2A NM_013449 c.4580G>A p.Arg1527Gln
11 117261519 CEP164 NM_014956 c.1961C>T p.Ala654Val
11 72070023 CLPB NM_030813 c.766A>C p.Asn256His
11 61097050 DDB1 NM_001923 c.334A>T p.Ile112Phe
11 61099086 DDB1 NM_001923 c.139G>A p.Glu47Lys
1 10529353 DFFA NM_004401 c.179C>T p.Thr60Ile
11 46396161 DGKZ NM_201532 c.1517T>C p.Phe506Ser
1 44680377 DMAP1 NM_001034023 c.200A>T p.Asp67Val
4 110901232 EGF NM_001178130 c.2158C>T p.Arg720Cys
4 110915959 EGF NM_001178130 c.2805T>A p.Cys935*
7 55231449 EGFR NM_201282 c.1655A>C p.Asn552Thr
10 50740827 ERCC6 NM_000124 c.184G>A p.Ala62Thr
16 89851328 FANCA NM_000135 c.1404G>T p.Lys468Asn
6 30521271 GNL1 NM_005275 c.664C>G p.Leu222Val
10 96306191 HELLS NM_018063 c.89T>A p.Met30Lys
1 153742705 INTS3 NM_023015 c.2421G>C p.Gln807His
1 153744835 INTS3 NM_023015 c.2740A>T p.Lys914*
6 42985075 KLHDC3 NM_057161 c.145T>G p.Phe49Val
17 8273384 KRBA2 NM_213597 c.547C>T p.Arg183*
3 49167350 LAMB2 NM_002292 c.1327C>T p.His443Tyr
6 52129538 MCM3 NM_002388 c.2275C>A p.His759Asn
6 52148114 MCM3 NM_002388 c.169A>T p.Lys57*
7 99691911 MCM7 NM_182776 c.1205C>A p.Ala402Asp
6 30675438 MDC1 NM_014641 c.2918C>G p.Ala973Gly
12 68719303 MDM1 NM_017440 c.551A>C p.Asn184Thr
1 46073578 NASP NM_001195193 c.803A>C p.Gln268Pro
13 25049687 PARP4 NM_006437 c.1837C>T p.Leu613Phe
22 38461037 PICK1 NM_001039583 c.182A>C p.Asp61Ala
12 133237560 POLE NM_006231 c.3055A>G p.Ser1019Gly
12 133240651 POLE NM_006231 c.2645A>G p.Asn882Ser
6 43550079 POLH NM_006502 c.23T>G p.Val8Gly
11 7660974 PPFIBP2 NM_003621 c.1248C>A p.Phe416Leu
11 7670122 PPFIBP2 NM_003621 c.1889T>C p.Leu630Pro
2 1670120 PXDN NM_012293 c.1157A>T p.Asp386Val
2 1680732 PXDN NM_012293 c.815A>T p.Asn272Ile
19 13063505 RAD23A NM_005053 c.816A>T p.Gln272His
12 110957646 RAD9B NM_152442 c.815T>A p.Ile272Asn
4 39310618 RFC1 NM_001204747 c.1523A>C p.Gln508Pro
9 94486015 ROR2 NM_004560 c.2761C>T p.Pro921Ser
9 135171409 SETX NM_015046 c.5956A>T p.Arg1986Trp
9 135205531 SETX NM_015046 c.1454G>C p.Trp485Ser
6 146244812 SHPRH NM_001042683 c.3512A>G p.Lys1171Arg
10 69672638 SIRT1 NM_012238 c.1765G>T p.Glu589*
16 18846451 SMG1 NM_015092 c.8093C>A p.Thr2698Lys
12 104376700 TDG NM_003211 c.602A>C p.Lys201Thr
14 24711133 TINF2 NM_001099274 c.260T>C p.Phe87Ser
17 38546386 TOP2A NM_001067 c.4298A>C p.Lys1433Thr
17 18178184 TOP3A NM_004618 c.2938A>T p.Lys980*
18 662218 TYMS NM_001071 c.352T>G p.Leu118Val
15 70971987 UACA NM_001008224 c.812T>C p.Val271Ala
8 103324043 UBR5 NM_015902 c.2338C>A p.Gln780Lys
8 103359274 UBR5 NM_015902 c.433G>T p.Gly145Cys
8 30949362 WRN NM_000553 c.1846G>C p.Ala616Pro
8 31030529 WRN NM_000553 c.4210A>G p.Lys1404Glu
12 58345668 XRCC6BP1 NM_033276 c.443C>T p.Ala148Val