title: [Molecular pathology in hereditary colorectal cancer. Recommendations of the Collaborative German Study Group on hereditary colorectal cancer funded by the German Cancer Aid (Deutsche Krebshilfe)].
abstract: Although twin studies indicate that inherited genetic factors contribute to about 35% of colorectal cancers (CRC), the exact genetic background has currently been elucidated in only 5-10% of cases. These comprise several hereditary cancer predisposition syndromes that present with a high number of syn- or metachronous neoplasms within an affected person and/or family. Many of these tumors exhibit typical histopathological changes. In general, one should discriminate between cancer syndromes associated with adenomatous and non-adenomatous (i.e., hamartomatous) polyps, the latter being quite rare. The patient's age often serves as a substantial hint to hereditary cancer. The next step of diagnostic work-up includes analysis of microsatellite instability (MSI) together with immunohistochemical detection of a loss of expression in one of the most frequently affected mismatch repair genes (MSH2, MSH6; MLH1, PMS2). Finally, the molecular demonstration of a gene mutation in the blood or germline is the most expensive and tedious procedure. This requires a signed informed consent from the patient after appropriate genetic counseling.
authors.affiliation: Institut für Pathologie, Klinikum Kassel. ruesch@klinikum-kassel.de
authors.forename: J
authors.initials: J
authors.lastname: Rüschoff
authors.forename: B
authors.initials: B
authors.lastname: Roggendorf
authors.forename: F
authors.initials: F
authors.lastname: Brasch
authors.forename: M
authors.initials: M
authors.lastname: Mathiak
authors.forename: D E
authors.initials: DE
authors.lastname: Aust
authors.forename: J
authors.initials: J
authors.lastname: Plaschke
authors.forename: W
authors.initials: W
authors.lastname: Mueller
authors.forename: C
authors.initials: C
authors.lastname: Poremba
authors.forename: M
authors.initials: M
authors.lastname: Kloor
authors.forename: G
authors.initials: G
authors.lastname: Keller
authors.forename: M
authors.initials: M
authors.lastname: Muders
authors.forename: S
authors.initials: S
authors.lastname: Blasenbreu-Vogt
authors.forename: P
authors.initials: P
authors.lastname: Rümmele
authors.forename: A
authors.initials: A
authors.lastname: Müller
authors.forename: R
authors.initials: R
authors.lastname: Büttner
mesh_terms: D003110:Colonic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D012004:Rectal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*