Lynch syndrome in colorectal cancer patients.
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.
Giráldez
M Dolores
MD
Department of Gastroenterology, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, CIBERehd, IDIBAPS, University of Barcelona, Barcelona, Catalonia, Spain. mgiralde@clinic.ub.es
Castellví-Bel
Sergi
S
Balaguer
Francesc
F
Gonzalo
Victòria
V
Ocaña
Teresa
T
Castells
Antoni
A
D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D053843:DNA Mismatch Repair; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D053842:Microsatellite Instability; D009154:Mutation