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 |