Hereditary Gastrointestinal Cancer Panel

Overview

Test Name

Hereditary Gastrointestinal Cancer Panel

Test Code

HCE1007

Test Category

Gene Panels

Test Subcategory

Hereditary Cancer

Disease(s) Targeted

Gastrointestinal Cancer

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of Gastrointestinal cancer

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis

No. of Genes

Panel Content

APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, KIT, MLH1, MSH2, MSH6, MUTYH, PALB2, PDGFRA, PMS2, SMAD4, STK11, TP53

Mitochondrial Genome Included In The Analysis

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Gastrointestinal Cancer

Hereditary gastrointestinal (GI) cancers are malignant tumours arising from the gastrointestinal tract and accessory organs of digestion (including the esophagus, stomach, pancreas, small intestine, large intestine, and rectum) caused by inheriting a genetic variant. Inherited gene variants account for about 5–10% of all gastrointestinal cancers. The most common syndromes include:

Hereditary Diffuse Gastric Cancer (HDGC), caused by variants in the CDH1 gene and increasing the risk for diffuse stomach cancer;

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Germline variants in KIT have been implicated in inherited susceptibility to GIST;

Lynch syndrome, linked to variants in the MMR genes (MLH1, MSH2, MSH6, PMS2, EPCAM) and the highest risk for colorectal cancer;

Familial Adenomatous Polyposis (FAP), caused by variants in the APC gene and leading to numerous colonic polyps that inevitably develop into colorectal cancer;

Peutz-Jeghers Syndrome (PJS), caused by variants in the STK11 gene, which increases the risk of GI, breast, and pancreatic cancers.