Reference Detail

Ref Type Journal Article
PMID (17881494)
Authors Aoki K, Taketo MM
Title Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene.
Journal Journal of cell science
Vol 120
Issue Pt 19
Date 2007 Oct 1
URL
Abstract Text The adenomatous polyposis coli (APC) gene is a key tumor suppressor gene. Mutations in the gene have been found not only in most colon cancers but also in some other cancers, such as those of the liver. The APC gene product is a 312 kDa protein that has multiple domains, through which it binds to various proteins, including beta-catenin, axin, CtBP, Asefs, IQGAP1, EB1 and microtubules. Studies using mutant mice and cultured cells have demonstrated that APC suppresses canonical Wnt signalling, which is essential for tumorigenesis, development and homeostasis of a variety of cell types, such as epithelial and lymphoid cells. Further studies have suggested that APC plays roles in several other fundamental cellular processes. These include cell adhesion and migration, organization of the actin and microtubule networks, spindle formation and chromosome segregation. Deregulation of these processes caused by mutations in APC is implicated in the initiation and expansion of colon cancer.

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Molecular Profile Treatment Approach
APC E1397* CTNNB1 Inhibitor
APC K716* CTNNB1 Inhibitor
APC I1164fs CTNNB1 Inhibitor
APC S1355fs CTNNB1 Inhibitor
APC S1465fs CTNNB1 Inhibitor
APC I1557fs CTNNB1 Inhibitor
APC H1490fs CTNNB1 Inhibitor
APC P1361fs CTNNB1 Inhibitor
APC E1309Afs*3 CTNNB1 Inhibitor
APC A1470fs CTNNB1 Inhibitor
APC E1309Dfs*4 CTNNB1 Inhibitor
APC T621Lfs*9 CTNNB1 Inhibitor
APC E1552* CTNNB1 Inhibitor
APC Q1303fs CTNNB1 Inhibitor
APC C1274fs CTNNB1 Inhibitor
APC P1439fs CTNNB1 Inhibitor
APC P1453fs CTNNB1 Inhibitor
APC R216* CTNNB1 Inhibitor
APC Q1303* CTNNB1 Inhibitor
APC E1577* CTNNB1 Inhibitor
APC A1325fs CTNNB1 Inhibitor
APC E1306fs CTNNB1 Inhibitor
APC K1462fs CTNNB1 Inhibitor
APC G1416* CTNNB1 Inhibitor
APC G1312fs CTNNB1 Inhibitor
APC Q1096* CTNNB1 Inhibitor
APC R232* CTNNB1 Inhibitor
APC T1438fs CTNNB1 Inhibitor
APC D1486fs CTNNB1 Inhibitor
APC S1315* CTNNB1 Inhibitor
APC F1491fs CTNNB1 Inhibitor
APC L795Sfs*25 CTNNB1 Inhibitor
APC S1346* CTNNB1 Inhibitor
APC D1422fs CTNNB1 Inhibitor
APC E1309* CTNNB1 Inhibitor
APC R213* CTNNB1 Inhibitor
APC E1374* CTNNB1 Inhibitor
APC E763* CTNNB1 Inhibitor
APC C1387* CTNNB1 Inhibitor
APC E1464* CTNNB1 Inhibitor
APC S1215* CTNNB1 Inhibitor
APC N869fs CTNNB1 Inhibitor
APC G1357fs CTNNB1 Inhibitor
APC T1445fs CTNNB1 Inhibitor
APC A1475fs CTNNB1 Inhibitor
APC T1493fs CTNNB1 Inhibitor
APC Q1429* CTNNB1 Inhibitor
APC S31fs CTNNB1 Inhibitor
APC C207* CTNNB1 Inhibitor
APC W421* CTNNB1 Inhibitor
APC Y737* CTNNB1 Inhibitor
APC E1345* CTNNB1 Inhibitor
APC E1408* CTNNB1 Inhibitor
APC R499* CTNNB1 Inhibitor
APC S1197* CTNNB1 Inhibitor
APC K1310* CTNNB1 Inhibitor
APC L684* CTNNB1 Inhibitor
APC E1306* CTNNB1 Inhibitor
APC E1379* CTNNB1 Inhibitor
APC D1394fs CTNNB1 Inhibitor
APC S1400* CTNNB1 Inhibitor
APC S1278* CTNNB1 Inhibitor
APC P1440fs CTNNB1 Inhibitor
APC T1301fs CTNNB1 Inhibitor
APC L1488Ffs*26 CTNNB1 Inhibitor
APC K1370* CTNNB1 Inhibitor
APC E1554fs CTNNB1 Inhibitor
APC G1499* CTNNB1 Inhibitor
APC P1443Lfs*30 CTNNB1 Inhibitor
APC T1556fs CTNNB1 Inhibitor
APC C1410* CTNNB1 Inhibitor
APC P950Afs*13 CTNNB1 Inhibitor
APC R1314fs CTNNB1 Inhibitor
APC Q1067* CTNNB1 Inhibitor
APC T1496fs CTNNB1 Inhibitor
APC D1484fs CTNNB1 Inhibitor
APC R405* CTNNB1 Inhibitor
APC Q1291* CTNNB1 Inhibitor
APC K1310fs CTNNB1 Inhibitor
APC E1547* CTNNB1 Inhibitor
APC R302* CTNNB1 Inhibitor
APC I606fs CTNNB1 Inhibitor
APC M1525Lfs*39 CTNNB1 Inhibitor
APC K1308* CTNNB1 Inhibitor
APC S1495fs CTNNB1 Inhibitor
APC Q1406* CTNNB1 Inhibitor
APC A1402fs CTNNB1 Inhibitor
APC R640G CTNNB1 Inhibitor
APC C1289fs CTNNB1 Inhibitor
APC inact mut CTNNB1 Inhibitor
APC K1817fs CTNNB1 Inhibitor
APC S1356fs CTNNB1 Inhibitor
APC P1372fs CTNNB1 Inhibitor
APC Q1367* CTNNB1 Inhibitor
APC D1425fs CTNNB1 Inhibitor
APC D1297fs CTNNB1 Inhibitor
APC E658* CTNNB1 Inhibitor
APC Y1376fs CTNNB1 Inhibitor
APC E1554* CTNNB1 Inhibitor
APC H1375fs CTNNB1 Inhibitor
APC Q1378* CTNNB1 Inhibitor
APC L1488* CTNNB1 Inhibitor
APC S811* CTNNB1 Inhibitor
APC P1319fs CTNNB1 Inhibitor
APC I1307Kfs*14 CTNNB1 Inhibitor
APC A1316fs CTNNB1 Inhibitor
APC E1461* CTNNB1 Inhibitor
APC P1443fs CTNNB1 Inhibitor
APC G1312* CTNNB1 Inhibitor
APC L1489fs CTNNB1 Inhibitor
APC R1435* CTNNB1 Inhibitor
APC R1399Ffs*9 CTNNB1 Inhibitor
APC Q1447* CTNNB1 Inhibitor
APC Q1294fs CTNNB1 Inhibitor
APC A1296fs CTNNB1 Inhibitor
APC V1377fs CTNNB1 Inhibitor
APC A928fs CTNNB1 Inhibitor
APC Q1480* CTNNB1 Inhibitor
APC S1356* CTNNB1 Inhibitor
APC L1564* CTNNB1 Inhibitor
APC Q1444* CTNNB1 Inhibitor
APC R283* CTNNB1 Inhibitor
APC A1485fs CTNNB1 Inhibitor
APC Y1376* CTNNB1 Inhibitor
APC N1026S CTNNB1 Inhibitor
APC Q886* CTNNB1 Inhibitor
APC E1295* CTNNB1 Inhibitor
APC R1435fs CTNNB1 Inhibitor
APC A1492fs CTNNB1 Inhibitor
APC E1544* CTNNB1 Inhibitor
APC N1455Ifs*18 CTNNB1 Inhibitor
APC R1450* CTNNB1 Inhibitor
APC Q1127* CTNNB1 Inhibitor
APC W553* CTNNB1 Inhibitor
APC P1458fs CTNNB1 Inhibitor
APC N1455fs CTNNB1 Inhibitor
APC Q1131* CTNNB1 Inhibitor
APC E868* CTNNB1 Inhibitor
APC N1300fs CTNNB1 Inhibitor
APC E1513* CTNNB1 Inhibitor
APC Q1294* CTNNB1 Inhibitor
APC A952Qfs*10 CTNNB1 Inhibitor
APC S1364fs CTNNB1 Inhibitor
APC K1555* CTNNB1 Inhibitor
APC C1387fs CTNNB1 Inhibitor
APC G471* CTNNB1 Inhibitor
APC M1431fs CTNNB1 Inhibitor
APC A1471fs CTNNB1 Inhibitor
APC T1301Pfs*4 CTNNB1 Inhibitor
APC P1373fs CTNNB1 Inhibitor
APC K1555fs CTNNB1 Inhibitor
APC E853* CTNNB1 Inhibitor
APC S1436fs CTNNB1 Inhibitor
APC Q1469* CTNNB1 Inhibitor
APC I1311fs CTNNB1 Inhibitor
APC Q1378fs CTNNB1 Inhibitor
APC L665* CTNNB1 Inhibitor
APC P1497fs CTNNB1 Inhibitor
APC S1315fs CTNNB1 Inhibitor
APC R1348fs CTNNB1 Inhibitor
APC R554* CTNNB1 Inhibitor
APC E1494fs CTNNB1 Inhibitor
APC S1411fs CTNNB1 Inhibitor
APC D1318fs CTNNB1 Inhibitor
APC Q424* CTNNB1 Inhibitor
APC E190* CTNNB1 Inhibitor
APC S1465Wfs*3 CTNNB1 Inhibitor
APC Y935* CTNNB1 Inhibitor
APC E1451* CTNNB1 Inhibitor
APC L1488fs CTNNB1 Inhibitor
APC Q1338* CTNNB1 Inhibitor
APC A1446fs CTNNB1 Inhibitor
APC K1449fs CTNNB1 Inhibitor
APC A1305fs CTNNB1 Inhibitor
APC E1322* CTNNB1 Inhibitor
APC F1354fs CTNNB1 Inhibitor
APC E1464fs CTNNB1 Inhibitor
APC A1351fs CTNNB1 Inhibitor
APC T1459fs CTNNB1 Inhibitor
APC E1317* CTNNB1 Inhibitor
APC P1483fs CTNNB1 Inhibitor
APC R876* CTNNB1 Inhibitor
APC I1307fs CTNNB1 Inhibitor
APC E1309fs CTNNB1 Inhibitor
APC K1350* CTNNB1 Inhibitor
APC R564* CTNNB1 Inhibitor
APC C1578fs CTNNB1 Inhibitor
APC N741fs CTNNB1 Inhibitor
APC E1353* CTNNB1 Inhibitor
APC R1114* CTNNB1 Inhibitor
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Variant Impact Protein Effect Variant Description Associated with drug Resistance
R876* nonsense loss of function - predicted APC R876* results in a premature truncation of the Apc protein at amino acid 876 of 2843 (UniProt.org). Due to the loss of several known functional domains (UniProt.org, PMID: 17881494), R876* is predicted to lead to a loss of function.
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References