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Table 1 The distribution of mutations across the primary tissue types that are curated by COSMIC database

From: Alpha-1-antichymotrypsin as a novel biomarker for diagnosis, prognosis, and therapy prediction in human diseases

Tissue/sub-tissue

Histology

Sub histology

Point mutations (%)

Copy number variation (%)

Hypomethylation (%)

Gain

Loss

Bile duct/gallbladder

Carcinoma

Small cell carcinoma

5.88 (n = 17)

/

/

/

Bile duct/bile duct

Carcinoma

Adenocarcinoma

3.5 (n = 457)

/

/

/

Breast

Carcinoma

/

0.14 (n = 1429)

0.18

(n = 1131)

0.35

(n = 1131)

/

Central nervous system/cerebellum

Glioma

Astrocytoma Grade IV

7.14

(n = 14)

/

/

/

Cervix

Carcinoma

Squamous cell carcinoma

2.83

(n = 318)

/

0.33 (n = 299)

/

Endometrium

Carcinoma

Endometrioid carcinoma

3.61

(n = 581)

/

0.19 (n = 530)

/

Haematopoietic and lymphoid

Lymphoid neoplasm

Follicular lymphoma

2.33 (n = 43)

/

/

/

Kidney

Carcinoma

Papillary renal cell carcinoma

0.59 (n = 340)

/

1.05 (n = 286)

/

Liver

Carcinoma

Hepatocellular carcinoma

0.69 (n = 1012)

0.15 (n = 660)

0.15 (n = 660)

/

Lung

Carcinoma

Adenocarcinoma

3.48 (n = 1035)

0.53 (n = 375)

0.27 (n = 375)

/

Lung

Carcinoma

Squamous cell carcinoma

2.62 (n = 762)

0.4 (n = 500)

/

/

Ovary

Carcinoma

Serous carcinoma

0.59 (n = 673)

0.18 (n = 568)

0.18 (n = 568)

/

Oesophagus

Carcinoma

Adenocarcinoma

0.64 (n = 467)

   

Pancreas

Carcinoma

Ductal carcinoma

0.7 (n = 1281)

   

Prostate

Carcinoma

Adenocarcinoma

0.48 (n = 1462)

/

/

/

Skin

Malignant melanoma

/

8.35 (n = 826)

   

Stomach

Carcinoma

Adenocarcinoma

2.35 (n = 596)

/

/

/

Thyroid

/

neoplasm

6.67 (n = 15)

/

/

/

Upper aerodigestive tract/ head neck

Carcinoma

Squamous cell carcinoma

0.8 (n = 519)

0.58 (n = 626)

/

0.6 (n = 496)

Urinary tract/Bladder

Carcinoma

/

1.44 (n = 555)

0.5 (n = 399)

/

10.62 (n = 273)

  1. The data was derived from the COSMIC database (https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=SERPINA3_ENST00000393078), and there are 40,656 unique samples were used in this database, of which 506 unique samples with mutations were distributed in 40 types of tissues. n represents the number of samples