(60) Recently, Al-Ahmadie et al (61) showed that plasmacytoid UC is characterized by the presence of truncating mutations of cadherin 1 (CDH1
) encoding E-cadherin in a large proportion of plasmacytoid UC.
Diagnosis at a young age and germline mutations in CDH1
and CTN-NA1 are the main characteristics of HDGC (107).
RDx testing can determine inherited gene mutations that influence breast cancer, including BRCA1 and BRCA2, as well as TP53, PTEN, STK11, CDH1
, PALB2, CHEK2, ATM, NBN, BARD1 and BRIP1.
The LIG_APCC_Dbox_1 motifs that matched with amino acid residues GRYELAVLE (121-129) functional residues that bind to the Cdh1
and Cdc20 components of APC/C causing protein destruction during the cell cycle in the cytosol.
These include mutations in the STKll (Peutz-jeghers syndrome), pTen (Cowden's Syndrome), p53 (Li-Fraumeni Syndrome), CDH1
(Diffuse Hereditary Gastric Cancer Syndrome), and PALB2 (partner and localizer of BRCA 2) genes (13, 14).
E-cadherin which is encoded by CDH1
gene is a cell-cell adhesion molecule and seems to play a key role in carcinogenesis.
The genes that are most widely studied in the context of promoter methylation in lung cancer are p16INK4a, RASSF1A, APC, RAR[beta], CDH1
, CDH13, DAPK, FHIT, and MGMT.
(12) The genes that are most frequently associated with neuroendocrine carcinoma are GATA3, FOXA1, TBX3, and ARID1A as well as PIK3CA, AKT1, and CDH1
.12 Genomic analysis of the liver lesion noted on progression of palbociclib-based treatment revealed that she had ESR1 Y537S and ARID1A L1915fs*3 mutations as well as CCND1 amplification.
After the treatment with gemcitabine or combination of FA and gemcitabine, the expression levels of important genes associated with metastasis including MMP-2, MMP-9, TIMP-1, TIMP-2, CDH1
, CDH2, COL4A2, VEGF and HIF1A were determined using qPCR analysis.
An early study investigated the methylation status of several TSGs including the fragile histidine triad ( FHIT ), von Hippel-Lindau ( VHL ), [sz]-catenin ( CTNNB1 ), activated leukocyte cell adhesion molecule ( ALCAM ), retinoic acid receptor-[sz]2 ( RARB ), the CpG-rich regions 5' of the E-cadherin ( CDH1
), p16/cyclin-dependent kinase inhibitor 2A ( CDKN2A ), retinoblastoma, and SNRPN and D15S63 loci. Out of the 40 UMs that were examined, three exhibited hypermethylation in SNRPN and D15S63 , three had methylated alleles in RARB , and three in CDKN2A .
Among the genetic variations that predispose for GC are germ-line mutations in the gene CDH1
(Guilford et al., 1998; Huntsman et al., 2001; Carneiro, Oliveira, Suriano, & Seruca, 2008; Hansford et al., 2015).