Validation of an online questionnaire for identifying people at risk of familial and hereditary colorectal cancer

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 Lynch syndrome associated tumors: carcinoma of the endometrium, stomach, small intestines, pancreas, bile ducts, renal pelvis, ureters, ovaries, brain and carcinoma or adenoma of the sebaceous gland

Introduction

Colorectal cancer (CRC) is the second most prevalent type of cancer in the Netherlands with more than 13.000 newly diagnosed patients per year [1]. The lifetime risk of developing CRC in a Western population is 5–6 % [1–3]. Of all CRC cases, 15–20 % are related to familial or hereditary factors [4–6].

The most common form of inherited CRC is Lynch syndrome, which comprises 2–4 % of all CRC cases [7]. This syndrome is caused by an inherited mutation in one of the mismatch repair genes and is characterized by a predisposition to develop CRC and several extra-intestinal malignancies, such as endometrial, gastric and ovarian cancer, at a relatively young age [8, 9]. Lynch syndrome is usually suspected based on the internationally used Amsterdam I and II criteria and the Revised Bethesda criteria [10, 11]. Other hereditary types of CRC include several polyposis syndromes, such as familial adenomatous polyposis (FAP) and MUTYH-associated polyposis.

In familial CRC patients no genetic mutation can be found. The definition of this syndrome is based on the number and age at diagnosis of relatives with CRC. Patients who are suspected of having an inherited CRC syndrome in whom no genetic mutation is found can also be referred to as familial CRC patients [10, 11]. These patients have a threefold or higher risk of developing CRC [10, 11].

International guidelines recommend surveillance colonoscopies for both patients with familial CRC or Lynch syndrome [10–13].....

" We believe online questionnaires are to be preferred over paper questionnaires as they are easier and less expensive to use and can be used on a large scale [25, 38, 40, 41]. In several studies self-administered answers in online questionnaires were shown not to differ from answers to paper questionnaires [42, 43]."