Table 1 DNA variant profile (Case #1)
Gene | DNA variant | Amino acid alteration | Variant allele frequency (%) (Bold: VAF > 5%) | |||||
|---|---|---|---|---|---|---|---|---|
#1–0 blood | #1–1 SSL(A) | #1–2 HP(T) | #1–3 SSL(A) | #1–4 SSL(A) | #1–5 TSA(S) | |||
DCC | NM_005215.3:c.2277 T > G | NP_005206.2:p.Ile759Met | 47.3 | 53.5 | 54.2 | 50.8 | 50.9 | 54.9 |
MSH3 | NM_002439.4:c.1718G > A | NP_002430.3:p.Arg573Lys | 51.1 | 52.9 | 81.8 | 42.3 | 58.6 | 50 |
BAX | NM_004324.3:c.32G > A | NP_004315.1:p.Gly11Glu | 35.9 | 46.7 | 42.9 | 45.7 | 49.5 | 49.0 |
SRC | NM_005417.4:c.532C > T | NP_005408.1:p.Arg178Ter | 0 | 6.0 | 0 | 0 | 0 | 0 |
RET | NM_020975.4:c.296G > A | NP_066124.1:p.Arg99Gln | 0 | 6.7 | 0 | 0 | 0 | 0 |
MLH3 | NM_001040108.1:c.3769 T > C | NP_001035197.1:p.Ser1257Pro | 0 | 11.5 | 0 | 0 | 0 | 0 |
TCERG1 | NM_006706.3:c.1705G > C | NP_006697.2:p.Asp569His | 0 | 25.7 | 0 | 0 | 0 | 0 |
BUB1B | NM_001211.5:c.898A > C | NP_001202.4:p.Met300Leu | 0 | 0 | 18.8 | 0 | 0 | 0 |
PALB2 | NM_024675.3:c.829G > A | NP_078951.2:p.Asp277Asn | 0 | 0 | 30.0 | 0 | 0 | 0 |
CHEK2 | NM_001005735.1:c.1696C > T | NP_001005735.1:p.Arg566Cys | 0 | 0 | 16.7 | 0 | 0 | 0 |
CTNNA1 | NM_001903.2:c.2281C > T | NP_001894.2:p.Arg761Cys | 0 | 0 | 15.8 | 0 | 0 | 0 |
TCF7L2 | NM_001146274.1:c.1001C > T | NP_001139746.1:p.Ser334Leu | 0 | 0 | 6.2 | 0 | 0 | 0 |
ATM | NM_000051.3:c.5189G > A | NP_000042.3:p.Arg1730Gln | 0 | 0 | 0 | 7.9 | 0 | 0 |
TP53 | NM_000546.5:c.818G > T | NP_000537.3:p.Arg273Leu | 0 | 0 | 0 | 9.1 | 0 | 0 |
RNF43 | NM_017763.4:c.687G > A | splicing site | 0 | 0 | 0 | 7.4 | 0 | 0 |
BLM | NM_000057.2:c.1544delA | NP_000048.1:p.Asn515MetfsTer16 | 0 | 0 | 0 | 0 | 9.1 | 0 |
AXIN2 | NM_004655.3:c.1419_1421delCCA | NP_004646.3:p.His474del | 0 | 0 | 0 | 0 | 6.1 | 0 |
CDC27 | NM_001114091.1:c.1750A > G | NP_001107563.1:p.Ser584Gly | 0 | 0 | 0 | 0 | 5.8 | 0 |
CDC27 | NM_001114091.1:c.1665 T > G | NP_001107563.1:p.Asp555Glu | 0 | 0 | 0 | 0 | 7.4 | 0 |
MLH1 | NM_000249.3:c.638 T > A | NP_000240.1:p.Val213Glu | 0 | 0 | 0 | 0 | 8.3 | 0 |
BRAF | NM_004333.4:c.1799 T > A | NP_004324.2:p.Val600Glu | 0 | 0 | 0 | 0 | 14.7 | 13.9 |
RET | NM_020975.4:c.2842G > A | NP_066124.1:p.Gly948Arg | 0 | 0 | 0 | 0 | 0 | 6.3 |
ERBB2 | NM_004448.2:c.1295G > A | NP_004439.2:p.Arg432Gln | 0 | 0 | 0 | 0 | 0 | 10.5 |
ERBB2 | NM_004448.2:c.1846 T > C | NP_004439.2:p.Phe616Leu | 0 | 0 | 0 | 0 | 0 | 5.7 |
STK11 | NM_000455.4:c.928C > T | NP_000446.1:p.Arg310Trp | 0 | 0 | 0 | 0 | 0 | 6.7 |
TCERG1 | NM_006706.3:c.2870delA | NP_006697.2:p.Lys957ArgfsTer17 | 0 | 0 | 0 | 0 | 3.5 | 11.3 |