The emerging roles of ARID1A in tumor suppression

Figures & data

Table 1. Recurrent mutation and protein loss of ARID1A in cancers^a

Cancer types	Mutation (%)	Protein loss (%)	References
Ovarian clear cell carcinoma	24/42 (57%)	N/A	23
	55/119 (46%)	55/132 (42%)	24
	N/A	88/149 (59%)	25
	N/A	35/68 (52%)	26
	N/A	40/90 (44%)	27
	N/A	34/82 (41%)	28
Ovarian endometrioid carcinoma	10/33 (30%)	39/125 (31%)	24
	N/A	62/130 (48%)	28
Ovarian endocervical-type mucinous borderline tumor	N/A	8/24 (33%)	29
Endometrial endometrioid carcinoma	82/186 (44%)	N/A	30
	10/25 (40%)	15/58 (26%)	31
	73/186 (39%)	N/A	32
	N/A	73/214 (34%)	33
	N/A	27/111 (24%)	34
	N/A	84/436 (19%)	35
Endometrial serous carcinoma	4/42 (10%)	N/A	32
	N/A	17/95 (18%)	33
	N/A	1/44 (3%)	35
	N/A	0/17 (0%)	31
Endometrial clear cell carcinoma	N/A	6/23 (26%)	33
	N/A	5/22 (23%)	36
	N/A	4/19 (21%)	35
	N/A	10/50 (20%)	37
Endometrial carcinosarcoma	N/A	18/127 (14%)	33
Cervical adenocarcinoma	N/A	14/45 (31%)	38
	N/A	6/25 (24%)	39
Cervical squamous cell carcinoma	N/A	19/116 (16%)	39
	N/A	3/46 (7%)	38
Esophageal adenocarcinoma	10/54 (19%)	N/A	40
	3/20 (15%)	12/98 (12%)	41
	14/149 (9%)	N/A	42
Gastric carcinoma	32/109 (29%)	22/109 (20%)	43
	10/100 (10%)	N/A	44
	9/110 (8%)	N/A	45
	N/A	26/180 (14%)	33
	N/A	5/45 (11%)	31
	N/A	94/857 (11%)	46
Colorectal carcinoma	12/119 (10%)	N/A	44
	21/224 (9%)	N/A	47
	N/A	2/49 (4%)	31
	N/A	2/250 (1%)	33
Hepatocellular carcinoma	20/125 (16%)	N/A	48
	14/110 (13%)	N/A	49
	15/147 (10%)	N/A	50
	N/A	0/41 (0%)	31
Cholangiocarcinoma	32/209 (15%)	N/A	51
	9/64 (14%)	N/A	52
	N/A	2/27 (7%)	31
Pancreatic adenocarcinoma	10/119 (8%)	N/A	44
	3/36 (8%)	N/A	53
Breast carcinoma	4/114 (4%)	N/A	44
	11/507 (2%)	N/A	54
	0/11 (0%)	64% (n = 236)^b	55
	N/A	63/112 (56%)^b	56
	N/A	11/315 (3%)	33
	N/A	1/91 (1%)	31
Urothelial carcinoma of bladder	15/99 (15%)	N/A	57
	13/97 (13%)	N/A	58
	6/52 (12%)	N/A	59
Anaplastic thyroid carcinoma	N/A	5/35 (14%)	33
Cutaneous melanoma	14/121 (12%)	N/A	60
	3/25 (12%)	N/A	61
Pediatric Burkitt lymphoma	5/29 (17%)	N/A	62
Waldenstrom macroglobulinemia	5/30 (17%)	N/A	63
Lung adenocarcinoma	15/183 (8%)	N/A	64
Lung squamous cell carcinoma	12/178 (7%)	N/A	65
Neuroblastoma	4/71 (6%)	N/A	66

^aOnly cancer types with >5% mutation or protein loss were shown. ^bLess stringent criteria were used for IHC interpretation.

Figure 1. Mutation frequency of ARID1A among human cancers. A total of 594 mutated samples from 5160 tumors belonging to 25 different tumor types have been reported (as of January 2014). Among all neoplastic diseases analyzed, ARID1A mutation is most prevalent in ovarian clear cell carcinoma, uterine endometrioid carcinoma, and ovarian endometrioid carcinoma, all of which are derived from either ectopic or eutopic endometrial epithelium. ARID1A mutations are associated with loss of ARID1A expression as shown in an example of uterine endometrioid carcinoma while normal endometrium expresses ARID1A protein.

Figure 2. The relationship between ARID1A mutation and PIK3CA mutation (A), and between ARID1A mutation and TERT promoter mutation (B). Green boxes are tumors harboring somatic ARID1A mutations while red boxes are tumors with either PIK3CA mutation or TERT promoter mutation. Each box represents an individual tumor. The total number of tumors, the odds ratio (OR) and P values are shown above each diagram.

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