Hereditary and Familial Colon Cancer

Abstract

Between 2% to 5% of all colon cancers arise in the setting of well defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and certain hamartomatous polyposis conditions. Each is associated with a high risk of colon cancer. In addition to the syndromes, up to one-third of colon cancers exhibit increased familial risk, likely related to inheritance. A number of less penetrant, but possibly more frequent susceptibility genes have been identified for this level of inheritance. Clarification of predisposing genes allows for accurate risk assessment and more precise screening approaches. This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines.

S3-Leitlinie – Kolorektales Karzinom

“…Evidenz aus Aktualisierungsrecherche: [188,189,192,193,203,204] Konsens Hintergrund Etwa 20 -30 % der KRK-Fälle treten "familiär gehäuft" auf, d. h. es kann ein gehäuftes Vorkommen der Krebserkrankung innerhalb einer Familie beobachtet werden, ohne dass jedoch konkrete genetische Ursachen identifiziert werden können. In diesem Fall wird der Begriff "Familiäres kolorektales Karzinom" verwendet [188].…”

“…In diesem Fall wird der Begriff "Familiäres kolorektales Karzinom" verwendet [188]. Für Verwandte ersten Grades (Eltern, Geschwister, Kinder) eines Patienten mit einem KRK ist das mittlere Risiko 2-bis 3-fach erhöht.…”

Evaluation of colorectal cancers for Lynch syndrome: practical molecular diagnostics for surgical pathologists

“…The renaming of the syndrome to Lynch is in part due to the recognition of the risk of these extra-colonic cancers; indeed, among women (and in certain affected families) the risk of endometrial cancer may be greater than the risk of colorectal cancer. 1 …”

Germline Genetics in Colorectal Cancer Susceptibility and Prognosis

“…Although individuals with LS frequently have adenomatous polyps, individuals with this syndrome do not have polyposis. In addition to a lifetime risk of approximately 50-80% for colorectal cancer, there is an increased risk of ovarian, endometrial and gastric cancers (Jasperson et al, 2010). Since the genes have been identified, some conditions which were once thought to be distinct (e.g.…”