Molecular alterations in ARID1A+ tumors
Tissue used for analysis | Molecular alterations in ARID1A | Hystology |
---|---|---|
Primary disease (diagnosis) | ARID1A-PTAR1 truncation, S2249* | Ovarian (clear cell) |
L1731fs*4; Q372fs*19 | Endometrial (endometrioid) | |
N104fs*7 | Cervical | |
P1175fs*5; Q766fs*67 | Endometrial (endometrioid) | |
Q372fs*19 | Ovarian (clear cell) | |
R727fs*84 | Ovarian (clear cell) | |
W2049* | Colorectal | |
P224fs*8 | Gastric | |
Y2254* | Cervical (clear cell) | |
S1171fs*22 | Duodenal | |
ARID1A truncation | Lung | |
P146fs*86 | Pancreas | |
K1072fs*21-subclonal | Endometrial (endometrioid) | |
Relapsed disease | Q1409*; S1609fs*38 | Endometrial (endometrioid) |
Q1519fs*8; G623fs*6 | Endometrial (endometrioid) | |
Q372fs*19 | Endometrial | |
Q567* | Ovarian (clear cell) | |
W1073fs*32 | Breast | |
Y447* | Cervical | |
Y788* | Ovarian (high grade) | |
F2141fs*59, M1564fs*1 | Endometrial (endometrioid) | |
Blood | ARID1A-ARHGEF40 truncation | Hepatocellular |
Q1327fs*11 | Colorectal | |
Q1579* | Breast | |
Q754* | Lung |
PTAR1: prenyltransferase alpha subunit repeat containing 1; ARHGEF40: Rho guanine nucleotide exchange factors gene 40
RF: Conceptualization, Formal analysis, Data curation, Writing—review & editing. GD: Conceptualization, Supervision. MF and PL: Data curation. VA and FPS: Formal analysis. GS: Supervision. All authors read and approved the submitted version.
RF, MF, PL, VA, and FPS declare that they have no conflicts of interest. GS has served on advisory boards for TESARO Bio Italy S.r.l, Johnson & Johnson, Clovis Oncology Italy S.r.l. He received support for travel or accommodation from MSD Italy S.r.l and Clovis Oncology Italy S.r.l. GD has served on advisory board of Beigene and received support for travel and accommodation from Roche.
The study complies with the declaration of Helsinki and was approved by the Ethics Committee of Fondazione Policlinico Universitario A. Gemelli IRCCS (ID5261).
Informed consent to participate in the study was obtained from all participants.
Not applicable.
The data generated in the present study can be requested from the corresponding author (Gennaro Daniele, gennaro.daniele@policlinicogemelli.it).
Not applicable.
© The Author(s) 2023.