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Colorectal cancer (CRC) affects 1 in 20 people during their lifetime. An estimated 25% of all CRC cases present a familial clustering of the disease suggesting a contribution of genetic factors among other risk factors, while approximately 5% of all CRC cases are purely hereditary.
Hereditary non-polyposis colorectal cancer, also known as Lynch syndrome (LS) accounts for the majority of these hereditary CRC cases (2-3% of overall CRC cases).
But diagnostic criteria are complex and several studies have reported a lack of sensitivity and specificity for the Amsterdam criteria and the revised Bethesda guidelines, which are typically used for the identification of LS patients. In addition, heterogeneous and overlapping phenotypes make it difficult to distinguish from other type of hereditary CRCs and decide which genes should be analyzed first.
Our next generation sequencing panel for CRC therefore aims at facilitating patient referral for molecular screening, while keeping costs at a reasonable level.
The CRC gene panel is recommended for patient whose diagnosis and/or family history is indicative of a suspicion of hereditary CRC. Such indications include :
Early age of cancer onset:
Patient presenting multiple cumulative polyps:
Patient with multiple related primary CRCs or other associated LS cancers
Patient fulfilling the revised Bethesda guidelines or from a family meeting the Amsterdam II criteria
Family history:
Management options include:
Surveillance
Prophylactic Surgical Options
Surveillance
Prophylactic Surgical Options
Surveillance
Prophylactic Surgical Options
Surveillance
Prophylactic Surgical Options
Surveillance
Surveillance
Methodology
TAT
5-6 weeks in average. Urgent testing is available upon request.