Review Article

Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk

Table 11

Alterations of some components of TGF-β pathway in human tumors.

TGF-βR2(i) The TGF-βR2 gene has been mapped to chromosome 3p, a chromosome in which mutation was observed in small cell lung carcinoma (SCLC), non-small-cell lung carcinoma (NSCLC), CRCs, and ovarian and breast cancers [142144]
(ii) Besides mutations in the coding region of TGF-βR2, loss of expression of TGF-βR2 in NSCLCs, bladder cancer, and breast cancer were reported [145147]

TGF-βR1(i) The TGF-βR1 gene has been mapped to chromosome 9q
(ii) Mutation in TGF-β gene was reported in ovarian cancer, head and neck squamous cell carcinomas (HNSCC), and breast cancer [148150]
(iii) Homozygous deletion of TGF-βR1 was also identified in pancreatic and biliary adenocarcinomas [151]

SMAD3(i) The gene for SMAD3 is located in chromosome 15q21-q22
(ii) The rate of mutation in the SMAD3 gene is rare, and there are only few examples of such defects in Smad3 expression that was found in some gastric cancer and leukemia [152, 153]

SMAD2/SMAD4 and SMAD7(i) Chromosome 18q has genes encodes for SMAD2, SMAD4, and SMAD7
(ii) Mutation in chromosome 18q was found in about 30% of neuroblastoma, breast, prostate, and cervical cancers and even more frequently in HNSCC (40%), NSCLC (56%), colon cancer (60%), gastric cancer (61%), and 90% of pancreatic tumors [154, 155]