Genetic testing for colon cancer susceptibility
Colorectal cancer (CRC) affects on average 1 in 20 men or women during their lifetime. The majority of cases are random, yet around 30% is the number of hereditary cases, i.e. this number includes cases with a strong genetic cause for the disease.
Lynch syndrome is the most common form of hereditary colon cancer, but certain other genes are also associated with an increased risk of developing CRC.
WHAT IS COLONEXT AND WHAT IS IT USED FOR?
ColoNext is a next-generation comprehensive gene sequencing panel simultaneously analyzing 17 genes proven to be associated with increased colon cancer risk. While mutations in each of the genes in the panel individually may be rare, when they are examined collectively, a strong predisposition to hereditary cancer is detected.
Hereditary colon cancer syndromes are directly related to genes in the ColoNext panel, e.g. Lynch syndrome, Familial Adenomatous Polyposis, MUTYH-related polyposis, PTEN-related hamartoma, Hereditary Diffuse Gastric Carcinoma, Li-Fraumeni syndrome, Pötz-Jegers syndrome, Juvenile Polyposis Syndrome).
Mutations in genes in this panel are associated with a 9 to nearly 100 % risk of developing colon cancer, and mutations in some genes can lead to a significantly increased risk of another type of tumor.
THE GENES IN THIS PANEL INCLUDE:
APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, and TP53. Complete genome sequencing was applied to 15 of the genes (excluding EPCAM and GREM1). Analysis for deletions and duplications was performed for all 17 genes. Analysis of specific sites associated with genetic mutations is available for patients with familial burden.
COLONEXT CAN BE APPLIED TO PATIENTS WITH:
- Diagnosed with colon cancer at an early age (< 50 years of age)
- Multiple primary tumours in one patient (e.g. 2 primary colorectal masses or colorectal cancer with uterine cancer).
- Three or more family members with colorectal cancer, uterine cancer, ovarian cancer and/or stomach cancer.
- More than 1 family members with colon cancer or other type of malignancy detected.
- 10 or more colorectal (GI) polyps found in the patient (adenomatous, hyperplastic, hamartomatous and/or other types of polyps).
- Previous genetic tests for hereditary colon cancer have been uninformative (negative for the VUS gene).
WHO SHOULD BE EXAMINED?
- Diagnosed cancer in a family member at an earlier age than the statistical average age (≤ 50 years for most cancers).
- A single case of cancer detected in a family member in any of the generations , and in more generations in the family, especially if detected at a younger than average age.
- A single case with multiple primary tumors found (found in paired organs or in different organs).
- Cases of overt cancer in the family history that are typical examples of a known predisposition syndrome (e.g. breast and pancreatic cancer in Lynch syndrome or hereditary diffuse gastric carcinoma and lobular carcinoma of the breast due to mutations of the CDH1 gene).
WHAT ARE THE ADVANTAGES OF THE TEST?
- Detecting patients with an inherited predisposition to a particular type of cancer;
- The results can be helpful for physician treatment, determining surveillance options and timing for first screening;
- Specific cancer risk reduction measures are proposed (surgical intervention for women at high risk of developing breast/ovarian cancer after childbirth);
- Elucidation and risk assessment of uterine, colorectal and ovarian cancer with mutations in the MHL1 gene based on complex gene-specific association tests;
- Suggests treatment guidelines (e.g. avoid radiotherapy for patients with TP53 gene mutation)
- Detection of other family members with a predisposition to develop cancer;
- Provides guidance on new gene-specific treatments and risk reduction measures.
For more information, you can call +359895770869.
