Review Article

Genomic Structure and Variation of Nuclear Factor (Erythroid-Derived 2)-Like 2

Table 6

NRF2 somatic mutations revealed in various human cancers.

DomainAmino acid residuesDNA mutationCancer types (cases)References
LocusWild typeMutant

DLG motif24W (Trp)C (Cys)c.72G>C/G>TNSCLC, neck, ESC [54, 62]
K (Lys)c.72T>CESC[62]
26Q (Gln)E (Glu)c.76C>GNSCLC, ESC[54, 62]
27D (Asp)G (Gly)*c.80G>ANSCLC[60]
Y (Tyr)c.79G>TESC[61]
28I (Ile)T (Thr)c.83C>TNSCLC[54]
29D (Asp)G (Gly)c.86A>GHead and neck, ESC[54, 62]
H (His)c.85G>CNSCLC, laynx[60, 61]
30L (Leu)F (Phe)c.88C>TNSCLC, ESC[54, 62]
31G (Gly)A (Ala)c.92G>CNSCLC, ESC, skin[54, 6062]
32V (Val)T (Thr)c.95T>GNSCLC[54]
delc.93_95delAGTESC[61]
33–36S-R-E-V S-R-E-V-S-R-E-V*c.97_108dupAGTCGAGCCGTAESC[61]
34R (Arg)Q (Gln)c.101G>ANCSCL[54, 60, 61]
P (Pro)c.101G>CNSCLC[63]

ETGF motif
75Q (Gln)H (His)c.225A>CHead and neck, ESC[54, 62]
77D (Asp)V (Val)c.230A>TNSCLC, ESC[54, 60, 62]
G (Gly)c.230A>GESC[62]
A (Ala)c.230A>CNSCLC[61]
N (Asn)c.229G>ALarynx[61]
78E (Glu)K (Lys)c.232G>ANSCLC, ESC[54, 62]
79E (Glu)K (Lys)c.235G>ANSCLC, ESC[54, 61, 62]
Q (Gln)c.235G>CNSCLC, ESC[54, 6062]
G (Gly)c.236A>GLarynx [61]
E-Ec.234_236dupAGAESC[61]
80T (Thr)K (Lys)c.239C>A/C>GNSCLC, ESC[54, 61, 62]
80
T (Thr)
P (Phe)c.238A>CESC[62]
I (Ile)c.239C>THead and neck[54]
A (Ala)c.238A>GNSCLC[63]
81G (Gly)V (Val)c.242G>TESC[61]
D (Asp)c.242G>ANSCLC, ESC[6062]
82E (Glu)D (Asp)c.246A>TESC, oral cancer cell line[54, 62]
G (Gly)c.245A>GNSCLC[54]
Q (Gln)*c.244G>C NSCLC, ESC[60, 61]
V (Val)*c.245A>T ESC[61]
83F (Phe)L (Leu)*c.247T>CNSCLC[60]

NSCLC: non-small cell lung cancer, ESC: esophageal squamous cancer, and errors in reference fixed. Number of cases: 82 NSCLC and 10 ESC in [62]; 125 NSCLC, 70 ESC, 23 larynx, and 17 skin in [61]; 103 NSCLC and 12 head and neck in [54]; 90 NSCLC in [63]; 103 NSCLC in [60].