APC
HGNC:583 · 35 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APC | “45.0% MDACC and 41.1% TCGA, with a p-value < 0.001), APC mutations (47.8% vs.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “A predominant B cell subset (59%) expressing CD74 or CXCR4 (termed as MIFR+ B cells) showed elevated expression of MHC class II genes (such as HLA-DRA and HLA-DPB1) and co-stimulatory genes (such as CD40 and CD83), indicating antigen-presenting cell (APC)-like functions.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “The oncogenesis includes activation of pro-inflammatory markers (IL-6, IL-1β, TNF-α), resulting in overexpression of oncogenes, downregulation of tumor suppressor genes (TSGs) like p53, pRb, APC, PTEN, suppression of antioxidant enzymes (GSH, CAT, SOD), and activation of signaling pathways (PI3K/Akt/mTOR/NF-κB, Ras/MAPK).” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Tumor suppressor genes (TSGs) like p53, PTEN, INK4, MADR2, APC, and oncogenes such as HER2, BCR/ABL1, CMYC, EML4AK, RAS, WNT, ERK, and TRK get mutated by OS.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “The TP53 gene was mutated in 82.5% of the analyzed cohort, followed by PIK3 CA (45%), FGFR3 (43.75%) and APC (35%).” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Colorectal cancer is one of the leading causes of cancer-related deaths worldwide, mainly due to aberrant Wnt/β-catenin signaling resulting from APC mutations.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “NGS already has the capacity to ameliorate genetic screening in families with previous histories of the high occurrence of various cancer-associated genes, including TP53, APC, BRCA2, and BRCA1.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Whole Exome-Wide Association Identifies Rare Variants in APC Associated with High-Risk Colorectal Cancer in the Middle East.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “In this tumour, two variants were synonymous: a deletion causing a frameshifting in [(c.3920delT; p. (Ile1307fs)], and a two-base pair insertion and deletion (INDEL) [(c.3986_3987delACinsGT; p. (His1329Arg)] both in the APC gene were also found.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “The top seven recurrent somatic mutations associated with SBS88-positive CRCs demonstrated mutational contexts associated with colibactin-induced DNA damage, the strongest of which was the APC:c.835-8A>G mutation (OR=65.5, 95%CI=39.0-110.0, p=3x10-80).” | 0.98 | hgnc_dict_v1 |
| gene | APC | “The APC gene was not included in the panel.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Of the 310 subjects, 119 (38.4%) were carriers of pathogenic or likely pathogenic variants (PVs) affecting one or more of the following genes: TP53, ATM, CHEK2, CDH1, CDKN2A, BRCA1, BRCA2, PALB2, BRIP1, RAD51D, APC, MLH1, MSH2, MSH6, PMS2, PTEN, NBN/NBS1 and MUTYH.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “RNF43 mutations were found in 5.9% (13/220) of CRC cases and was inversely correlated to APC and TP53 mutations.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Moreover, gene alterations in APC, EGFR, FBXW7, TP53, PTEN, K-ras genes were concomitant in CRC.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Deregulation of histone acetylation and methylation has been observed, together with gene methylation in genes such as p16, MGMT, APC, hMLH1, and also miR-143 repression.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “The known synonymous mutations were found in this tumor were, in exon 14 of FGFR3 in c.1953G>A; in exon 12 of PDGFRA in c.1701A>G; in exon 18 of PDGFRA c.2472C>T; in exon 20 of EGFR in c.2361G>A; in exon 13 of RET in c.2307G>T; in exon 16 of APC in c.4479G>A; and in exon 2 of MET in c.534C>T.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Genetic sequencing showed a point mutation in the CTNNB1 gene, with no mutations in the APC, BRCA1, and BRCA2 genes.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “APC, RET, and EGFR genes were most frequently mutated.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Germline mutations in APC and MLH1 have been proven to play an etiological role, resulting in the predisposition of individuals to CRC.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “APC truncating mutations in Middle Eastern Population: Tankyrase inhibitor is an effective strategy to sensitize APC mutant CRC To 5-FU chemotherapy.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Seven synonymous mutations were detected in this tumor, viz., in IDH1 (rs11554137), in FGFR3 (rs7688609), in PDGFRA (rs1873778), in APC (COSM3760869), in EGFR (rs1050171), in MET (rs35775721), and in RET (rs1800861), respectively.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “The methylation profile of a panel 9 genes (SFRP1, p14, p73, APC, DAPK, RASSF1A, LINE1, O6MGMT, and p16) was detected in patients' plasma using methylation-specific polymerase chain reaction (MSP).” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Eight synonymous mutations were found in FGFR3, PDGFRA, EGFR, RET, HRAS, FLT3, APC and SMAD4 genes.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “RESULTS: We highlight 30 published candidate genes (ACTL6B, ADAM22, AGTPBP1, APC, C12orf4, C3orf17 (NEPRO), CENPF, CNPY3, COL27A1, DMBX1, FUT8, GOLGA2, KIAA0556, LENG8, MCIDAS, MTMR9, MYH11, QRSL1, RUBCN, SLC25A42, SLC9A1, TBXT, TFG, THUMPD1, TRAF3IP2, UFC1, UFM1, WDR81, XRCC2, ZAK) in which we identified homozygous likely deleterious variants in patients with compatible phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Although APC mutations were present in only 23% of samples, additional WNT-related alterations were seen in 12%.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “BACKGROUND: Colorectal cancer (CRC) is categorized by alteration of vital pathways such as β-catenin (CTNNB1) mutations, WNT signaling activation, tumor protein 53 (TP53) inactivation, BRAF, Adenomatous polyposis coli (APC) inactivation, KRAS, dysregulation of epithelial to mesenchymal transition (EMT) genes, MYC amplification, etc.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “We studied thirteen single nucleotide polymorphisms (SNPs) located in SFRP3 (rs7775), CTNNB1 (β-catenin) [rs4135385, rs13072632], APC (rs454886, rs459552), LRP6 (rs2075241, rs2284396), DKK4 (rs3763511), DKK3 (rs6485350), TCF4 (rs12255372) and AXIN2 (rs3923086, rs3923087, rs4791171) in patients with colorectal cancer (n = 122) and controls (n = 110).” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Recurrent somatic mutations in APC, TP53, and KRAS were frequently detected in highly heterogeneous colorectal cancer.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “RESULTS: Targeted sequencing lead to the identification of frequent mutations in TP53 (65 %), APC (36 %), KRAS (35 %), PIK3CA (19 %), PTEN (13 %), EGFR (11 %), SMAD4 (11 %), and FBXW7 (7 %).” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Moreover, we conducted a comparative study between isogenic derivatives cell lines of the normal HCECs in order to mimic the mutation of three major genes found in CRC genetic models: APC, KRAS, and TP53.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “A novel APC mutation defines a second locus for Cenani-Lenz syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “The major tumor clone harbored APC and TP53 mutations as early oncogenic events, whereas the minor clone contained preponderant CDC27 and PABPC1 mutations.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Methylation of SFRPs and APC genes in ovarian cancer infected with high risk human papillomavirus.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “Current theories of malignant transformation postulate that development of colon cancer is related to 2 main pathways; the loss of heterozygosity pathway, which is usually due to a defect in the adenomatous polyposis coli APC gene and microsatellite instability, which is usually due to a defect in mismatch repair MMR genes.” | 0.98 | hgnc_dict_v1 |