Gene: PDGFRL

Alternate names for this Gene: PDGRL|PRLTS

Gene Summary: This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor.

Gene is located in Chromosome: 8

Location in Chromosome : 8p22

Description of this Gene: platelet derived growth factor receptor like

Type of Gene: protein-coding

rs9792282 in PDGFRL gene and Amino acids measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs137853148 in PDGFRL gene and Colorectal Carcinoma PMID 24996433 2014 RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.

PMID 25373533 2015 Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.

PMID 23429431 2013 Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?

PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.

PMID 17060676 2006 ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer.

PMID 7898930 1995 Isolation of a candidate tumor suppressor gene on chromosome 8p21.3-p22 that is homologous to an extracellular domain of the PDGF receptor beta gene.

PMID 22138009 2011 NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.

PMID 25006736 2014 Multitarget stool DNA testing for colorectal-cancer screening.

PMID 23012255 2012 ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making.

PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.

PMID 22855150 2012 Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM).

rs2245667 in PDGFRL gene and adiposity PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.