Table 1 Summary of the pattern of mutational signatures and somatic mutations for different types of normal tissue.

Lung

Normal bronchial epithelium from smokers, and ex-smokers

SBS 1, 2, 4, 5, 13, 16, 18, A, B

DBS 2, 4, 5, 6, 11, C

ID 1, 2, 3, 5, 8

ARID1A, ARID2, CHEK2, FAT1, NOTCH1, PTEN, TP53

-

-

[30]

Liver

Normal hepatocytes

SBS 5, A

ACVR2A, ALB

-

ALB

[32]

Cirrhotic liver parenchyma

SBS 1, 5, 12, 16, 40, A, D

ACVR2A, ALB

-

ALB

[32]

Normal hepatocytes

SBS 5, 18, 36

-

-

-

[33]

Non-dysplastic hepatocytes from patients with CLD

SBS 4, 6, 15, 29

ALB, ALMS1, APOB, APOBR, ARID1A, ARID2, AUTS2, CDH8, CHD2, CLASP1, COL22A1, DSPP, EP400, FBN2, IGFN1, KMT2D, LOR, MKI67, NF1, PAPPA2, PKD1, PKHD1, PPARGC1B, STARD9, SUZ12, TP53

ALMS1, KMT2D, PKHD1

ALB, ALMS1, APOB, APOBR, AUTS2, CDH8, CHD2, CLASP1, COL22A1, DSPP, EP400, FBN2, IGFN1, LOR, MKI67, NF1, PAPPA2, PKD1, PKHD1, PPARGC1B, STARD9, SUZ12

[34]

Cirrhotic liver parenchyma

T > A in a CTG context

ACVR2A, ALB, ATP6V0C, CIDEB, FOXO1, GPAM, NEAT1, RN7SK, TNRC6B

FOXO1, GPAM, TNRC6B

ALB, ATP6V0C, CIDEB, FOXO1, GPAM, NEAT1, RN7SK, TNRC6B

[35]

Oesophagus

Normal oesophageal squamous epithelium

SBS 1, 5, 16

AJUBA, ARID1A, ARID2, CCND1, CUL3, FAT1, KMT2D, NFE2L2, NOTCH1, NOTCH2, NOTCH3, PIK3CA, TP53, TP63

NOTCH1

AJUBA, CCND1, CUL3, NFE2L2, NOTCH3, TP63

[37]

Normal oesophageal squamous epithelium

SBS 1, 2, 4, 13, 16

CHEK2, FAT1, NOTCH1, NOTCH2, NOTCH3, PAX9, PIK3CA, PPM1D, TP53, ZFP36L2

CHEK2, FAT1, NOTCH1, NOTCH2, NOTCH3, PPM1D, ZFP36L2

NOTCH3, PAX9, PPM1D, ZFP36L2

[19]

Small intestine

Normal small intestinal epithelium

SBS 1, 2, 5, 13, 17b, 18, 35, 40, 41, 88

ACVR2A, ERBB2, FAT1, FBXO11, FBXW7, KMD6A, KMT2D, PIK3CA, RB1, ZFHX3

-

FBXO11, KMD6A

[12]

Colon

Normal colonic epithelium

SBS 1, 2, 5, 13, 18, 88, 89, C, D

DBS 2, 4, 6, 8, 9, 11

ID 1, 2, 5, 18, B

AXIN2, ERBB2, ERBB3, FBXW7, PIK3CA, STAG2

AXIN2, ERBB2, ERBB3, FBXW7, PIK3CA, STAG2

AXIN2

[45]

Organoids derived from ulcerative colitis-infammed epithelia

-

ARID1A, IL17RA, NFKBIZ, PIGR, ZC3H12A

ARID1A, IL17RA, NFKBIZ, PIGR, ZC3H12A

IL17RA, NFKBIZ, PIGR, ZC3H12A

[49]

Ulcerative and crohn’s disease affected colonic epithelium

SBS 1, 2, 5, 13, 17a, 17b, 18, 32, 35, 88, 89, C

ID 1, 2, 14, 18, B

ARID1A, FBXW7, PIGR, ZC3H12A

ARID1A, FBXW7, PIGR, ZC3H12A

PIGR, ZC3H12A

[25]

Colorectal, ileal and duodenal epithelia from individuals with exonuclease domain mutations in POLE or POLD1

SBS 1, 5, 10a, 10b, 10c, 10d, 17a, 17b, 28, 35, 88, 89

ID 1

AMER1, APC, ARID1A, ATRX, BCOR, CDK12, FBXW7, KMT2C, PIK3R1, UBR5

-

AMER1, APC, ATRX, BCOR, CDK12, UBR5

[48]

MAP-affected colonic epithelia

SBS 1, 5, 18, 36, 88

-

-

-

[47]

Kidney

Renal proximal tubule cells

SBS 1, 3, 5, 8

-

-

-

[50]

Bladder

Urothelium

SBS 2, 3, A, B, C

ARID1A, CDKN1A, CREBBP, ELF3, EP300, ERCC2, FOXQ1, GNA13, KDM6A, KLF5, KMT2D, NOTCH2, PTEN, RBM10, RHOA, STAG2, ZFP36L1

-

CDKN1A, CREBBP, ELF3, EP300, ERCC2, FOXQ1, GNA13, KDM6A, KLF5, RBM10, RHOA, ZFP36L1

[52]

Urothelium from bladder and ureter

SBS 1, 2, 5, 13, 22

ARID1A, CDKN1A, CHEK2, CREBBP, ELF3, EP300, ERCC2, FGFR3, FOXQ1, KDM6A, KMT2D, PIK3CA, RB1, RHOB, STAG2, TP53, TSC1, UTY, ZFP36L1

-

CDKN1A, CREBBP, ELF3, EP300, ERCC2, FGFR3, FOXQ1, KDM6A, RHOB, TSC1, UTY, ZFP36L1

[54]

Prostate

Normal prostatic epithelium

SBS 1, 5, 40

FOXA1

-

FOXA1

[18]

Endometrium

Endometriotic tissue

ARID1A, KRAS, PIK3CA, PPP2R1A

PPP2R1A

[56]

Endometriotic tissue

ACRC, ARID1A, FAT1, KRAS, PIK3CA, SPEG, TAF1

ACRC, SPEG, TAF1

[57]

Normal endometrium

AKT1, ERBB2, FGFR2, KRAS, NRAS, PIK3CA, PTEN

KRAS

AKT1, NRAS

[60]

Normal endometrium

SBS 1, 5, 18, 23, 40

ID 1

ARHGAP35, CHD4, ERBB2, ERBB3, FBXW7, FOXA2, KRAS, PIK3CA, PIK3R1, PPP2R1A, SPOP, ZFHX3

ARHGAP35, CHD4, FOXA2, PPP2R1A, SPOP

[58]

Normal endometrium

SBS 1, 5, 18

ARHGAP35, ARID1A, ARID5B, FBXW7, FGFR2, KMT2C, KRAS, PIK3CA, PIK3R1, PLXNB2, PPP2R1A, PTEN, TAF1, TP53, ZFHX3

ARHGAP35, ARID5B, PLXNB2, PPP2R1A, TAF1

[59]