Hereditary Colorectal Cancer and Polyposis Panel

Overview

Test Name

Hereditary Colorectal Cancer and Polyposis Panel

Test Code

HCE1003

Test Category

Gene Panels

Test Subcategory

Hereditary Cancer

Disease(s) Targeted

Colorectal Cancer and Polyposis

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of Colorectal Cancer and Polyposis.

Test Approach

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

No. of Genes

Panel Content

APC, AXIN2, BLM, BMPR1A, CDH1, EPCAM, GREM1, MBD4, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, 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 Colorectal Cancer and Polyposis

Colorectal Cancer (CRC) refers to cancer that starts in the colon(the large intestine) or rectum.It is also known as bowel cancer. It's the third most common cancer worldwide and the second leading cause of cancer-related deaths.

Approximately 5-10% of all colorectal cancer cases are due to inherited genetic variants. This means that these cases are associated with genetic syndromes that can be passed down in families. The most common genetic syndromes related to colorectal cancer are:

1. Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer - HNPCC): This is the most common hereditary colorectal cancer syndrome, accounting for about 3-5% of all cases. People with Lynch syndrome have a significantly increased risk of developing colorectal cancer, often before the age of 50 compared to the general population risk. It is associated with variants in DNA mismatch repair (MMR) genes like MLH1, MSH2, MSH6, and PMS2, or a deletion in EPCAM gene.

2. Familial Adenomatous Polyposis (FAP): This is a rarer conditionresponsible for about 1% of all colorectal cancer cases. FAP is caused by variants in the APC gene and is characterized by the development of hundreds to thousands of polyps in the colon and rectum, which, if untreated, almost always lead to cancer.

Other less common genetic syndromes that can increase colorectal cancer risk include MUTYH-associated polyposis (MAP) and Peutz-Jeghers syndrome (PJS, frequently associated with variants or deletions/duplications in STK11 gene).