From:  Clinical and mutational profile of AT-rich interaction domain 1A-mutated cancers

Molecular alterations in ARID1A+ tumors

Tissue used for analysisMolecular alterations in ARID1AHystology
Primary disease (diagnosis)ARID1A-PTAR1 truncation, S2249*Ovarian (clear cell)
L1731fs*4; Q372fs*19Endometrial (endometrioid)
N104fs*7Cervical
P1175fs*5; Q766fs*67Endometrial (endometrioid)
Q372fs*19Ovarian (clear cell)
R727fs*84Ovarian (clear cell)
W2049*Colorectal
P224fs*8Gastric
Y2254*Cervical (clear cell)
S1171fs*22Duodenal
ARID1A truncationLung
P146fs*86Pancreas
K1072fs*21-subclonalEndometrial (endometrioid)
Relapsed diseaseQ1409*; S1609fs*38Endometrial (endometrioid)
Q1519fs*8; G623fs*6Endometrial (endometrioid)
Q372fs*19Endometrial
Q567*Ovarian (clear cell)
W1073fs*32Breast
Y447*Cervical
Y788*Ovarian (high grade)
F2141fs*59, M1564fs*1Endometrial (endometrioid)
BloodARID1A-ARHGEF40 truncationHepatocellular
Q1327fs*11Colorectal
Q1579*Breast
Q754*Lung
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PTAR1: prenyltransferase alpha subunit repeat containing 1; ARHGEF40: Rho guanine nucleotide exchange factors gene 40