Lynch syndrome in colorectal cancer patients

Abstract

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is the most common form of hereditary colorectal cancer. It is characterized by early onset of colorectal cancer and other extracolonic-associated malignancies. This disorder is inherited in an autosomal dominant pattern and is due to a mutation in one of the DNA mismatch repair genes. Although clinical and molecular understanding of the syndrome has progressed dramatically in the last decade, diagnosis of the syndrome is still a clinical challenge. This review summarizes the main features of the syndrome and provides an update of its management.

Keywords::

• cancer genetics
• colorectal cancer
• HNPCC
• Lynch syndrome
• microsatellite instability
• mismatch repair deficiency
• prevention
• screening

Financial & competing interests disclosure

This work was supported by grants from the Ministerio de Educación y Ciencia (SAF 07-64873), the Fondo de Investigación Sanitaria (FIS 05/0071) and the Asociación Española contra el Cáncer. Francesc Balaguer and Victòria Gonzalo received a research grant from the Hospital Clínic, and Sergi Castellví-Bel is supported by a contract from the Fondo de Investigación Sanitaria (CP03-0070). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.