Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

This is an observational, case-control study evaluating the quantitative level of Septin9 in plasma pre- and post-colectomy in hereditary colorectal cancer (CRC) syndrome patients (Familial Adenomatous Polyposis (FAP), Lynch syndrome (also known as HNPCC), and Multiple Adenomatous Polyposis (MAP, also known as MYK/MYH) cases) and genetically related FAP-family members as controls and references.

Inclusion Criteria:

• Informed consent provided

• Age > or = to 18 years of age

• Patient group FAP

  - Clinical diagnosis of familial adenomatous polyposis

• Patient group Lynch syndrome Clinical diagnosis of Lynch syndrome

• Patient group MAP

  - Clinical diagnosis of MYH-associated polyposis and presence of more than 20 colon polyps

• Control group (FAP)

  - Genetically related family member of patient

• Patients: Able and willing to attend routine follow-up as advised

• Controls, i.e. relatives of patients: Willingness to give blood at each routine follow-up as advised for the diseased relative

Exclusion Criteria:

• Known infection with Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV), or Hepatitis C Virus (HCV)
• Current diagnosis of colorectal cancer
• Pregnancy