Svensk definition
En grupp autosomalt dominanta, nedärvda sjukdomar där tjocktarmscancer uppstår i diskreta körtelsvulster. Till skillnad från adenomatös tjocktarmspolypos med hundratals polyper, uppkommer ärftlig icke-polypos kolorektalcancer mycket senare, i fjärde eller femte decenniet. Ärftlig icke-polypos kolorektalcancer har kopplats samman med germinalcellsmutationer hos felparade reparationsgener. Sjukdomen har delats upp i Lynch syndrom I eller platsspecifik tjocktarmscancer samt Lynch syndrom II som inkluderar cancer utanför tjocktarmen.
Engelsk definition
A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
Svenska synonymer
Ärftlig icke-polypos kolorektalcancer — Lynchs syndrom
Engelska synonymer
Familial Nonpolyposis Colon Cancer — Hereditary Nonpolyposis Colorectal Neoplasms — Lynch Syndrome I — Colon Cancer, Familial Nonpolyposis, Type 1 — Familial Nonpolyposis Colon Cancer Type 1 — Lynch Cancer Family Syndrome I — Colorectal Cancer, Hereditary Nonpolyposis, Type 1 — Hereditary Nonpolyposis Colorectal Cancer Type 1 — Lynch Syndrome — Syndrome, Lynch — Hereditary Nonpolyposis Colorectal Cancer — Colorectal Cancer Hereditary Nonpolyposis — Hereditary Nonpolyposis Colon Cancer — Colon Cancer, Familial Nonpolyposis