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Table 1 Pathogenic germline mutations detected in the 20 breast cancer susceptibility genes in a high risk population for hereditary breast cancer in Taiwan (N = 480)

From: Germline breast cancer susceptibility gene mutations and breast cancer outcomes

Gene HGVS notation Type of variant No. of carriers SNP ID
BRCA1 NM_007294.3:c.5075-1G > A Splice site 1 rs1800747
BRCA1 NM_007294.3:c.4678_4679delGG (p.Gly1560Asnfs) Frameshift 2 Novel
BRCA1 NM_007294.3:c.3644_3648delACTTA (p.Asn1215Ilefs) Frameshift 1 Novel
BRCA1 deletion of exon 1 to 16 LGR 2 Novel
BRCA2 NM_000059.3:c.-7_9del16 Frameshift 1 Novel
BRCA2 NM_000059.3:c.469_470delAA (p.Lys157Valfs) Frameshift 2 rs397507739
BRCA2 NM_000059.3:c.755_758delACAG (p.Asp252Valfs) Frameshift 1 rs80359659
BRCA2 NM_000059.3:c.799dupG (p.Thr269Asnfs) Frameshift 1 Novel
BRCA2 NM_000059.3:c.857C > G (p.Ser286Ter) Nonsense 1 Novel
BRCA2 NM_000059.3:c.2095C > T (p.Gln699Ter) Nonsense 1 rs878853559
BRCA2 NM_000059.3:c.2442delC (p.Met815Trpfs) Frameshift 1 rs397507627
BRCA2 NM_000059.3:c.2754delC (p.Asn918Lysfs) Frameshift 1 Novel
BRCA2 NM_000059.3:c.2808_2811delACAA (p.Ala938Profs) Frameshift 1 rs80359351
BRCA2 NM_000059.3:c.2990 T > G (p.Leu997Ter) Nonsense 1 Novel
BRCA2 NM_000059.3:c.3109C > T (p.Gln1037Ter) Nonsense 3 rs80358557
BRCA2 NM_000059.3:c.3322A > T (p.Lys1108Ter) Nonsense 1 Novel
BRCA2 NM_000059.3:c.3883C > T (p.Gln1295Ter) Nonsense 1 rs879255309
BRCA2 NM_000059.3:c.4914dupA (p.Val1639Serfs) Frameshift 1 rs786203494
BRCA2 NM_000059.3:c.5141_5144delATTT (p.Tyr1714Cysfs) Frameshift 1 rs80359487
BRCA2 NM_000059.3:c.5164_5165delAG (p.Ser1722Tyrfs) Frameshift 6 rs80359490
BRCA2 NM_000059.3:c.5621_5624delTTAA (p.Ile1874Argfs) Frameshift 1 rs80359526
BRCA2 NM_000059.3:c.6275_6276delTT (p.Leu2092Profs) Frameshift 1 rs11571658
BRCA2 NM_000059.3:c.6490C > T (p.Gln2164Ter) Nonsense 1 rs397507860
BRCA2 NM_000059.3:c.6800C > A (p.Ser2267Ter) Nonsense 1 rs377698594
BRCA2 NM_000059.3:c.8203delC (p.Leu2736Serfs) Frameshift 1 Novel
BRCA2 NM_000059.3:c.8234dupT (p.Thr2746Aspfs) Frameshift 1 rs276174903
BRCA2 NM_000059.3:c.8400_8402delTTTinsAAAA (p.Phe2801Lysfs) Frameshift 1 rs483353077
BRCA2 NM_000059.3:c.8485C > T (p.Gln2829Ter) Nonsense 1 rs80359099
BRCA2 NM_000059.3:c.8961_8964delGAGT (p.Ser2988Phefs) Frameshift 1 rs80359734
BRCA2 NM_000059.3:c.9227delG (p.Gly3076Aspfs) Frameshift 1 rs397508040
PALB2 NM_024675.3:c.3143delA (p.Lys1048Argfs) Frameshift 1 Novel
PALB2 NM_024675.3:c.2968G > T (p.Glu990Ter) Nonsense 1 rs876659036
PALB2 NM_024675.3:c.2480_2481delCA (p.Thr827Metfs) Frameshift 1 Novel
PALB2 NM_024675.3:c.2257C > T (p.Arg753Ter) Nonsense 1 rs180177110
PALB2 NM_024675.3:c.1059delA (p.Lys353Asnfs) Frameshift 1 rs730881872
PALB2 NM_024675.3:c.1050_1051delAAinsTCT (p.Gln350Hisfs) Frameshift 2 rs180177098
PALB2 NM_024675.3:c.643G > T (p.Glu215Ter) Nonsense 2 Novel
ATM NM_000051.3:c.2284_2285delCT (p.Leu762Valfs) Frameshift 2 rs587781658
ATM NM_000051.3:c.6312G > A (p.Trp2104Ter) Nonsense 1 Novel
TP53 NM_000546.5:c.416_420dupAGACC (p.Cys141Argfs) Frameshift 1 Novel
PMS2 NM_000535.5:c.1144 + 1G > A Splice site 1 rs373885654
BRIP1 NM_032043.2:c.2244C > G (p.Tyr748Ter) Nonsense 1 Novel
BARD1 NM_000465.3:c.654G > A (p.Trp218Ter) Nonsense 1 Novel
RAD50 NM_005732.3:c.2157dupA (p.Glu723Glyfs) Frameshift 1 rs397507178
RAD51C NM_058216.2:c.394dupA (p.Thr132Asnfs) Frameshift 1 rs730881940
RAD51C NM_058216.2:c.905-2A > C Splice site 1 rs779582317
RAD51D NM_002878.3:c.270_271dupTA (p.Lys91Ilefs) Frameshift 6 rs753862052
  1. LGR: large genomic rearrangement