II. Epidemiology

  1. Prevalence: 1 in 440 persons (U.S.)
  2. Diagnosed on average by age 45 years
  3. Lifetime Colon Cancer risk: 75-80%
  4. Autosomal Dominant condition

III. Pathophysiology

  1. Rapid progression from advanced adenoma to Colorectal Cancer

IV. Associated Conditions

  1. Colon Cancer
    1. HNPCC is the most common cause of inherited Colorectal Cancer (2-4% of cases)
  2. Endometrial Cancer
  3. Gastric Cancer (subset of families)

V. Diagnosis

  1. Patient with first degree relative with Colorectal Cancer diagnosed before age 50 years OR
  2. Genetic Testing

VI. Management: Colorectal Cancer Screening

  1. Counseling to consider genetic testing
  2. Early Screening
    1. Colonoscopy starting at age 25 years (or 5 years earlier than youngest Colorectal Cancer relative)
    2. Repeat Colonoscopy every 1-2 years
  3. Genetic Testing positive or No genetic testing
    1. Colonoscopy every 2 years until age 40
    2. Colonoscopy yearly after age 40
    3. Continue surveillance until age 75 years old

VII. Management: Gastric Cancer Screening

  1. Indications
    1. HNPCC patients with Family History or genetic testing in which Gastric Cancer is a risk
  2. Upper endoscopy protocol
    1. Start at age 50 years (or five years before the youngest case)
    2. Repeat every 2 years until age 75 years

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Ontology: Hereditary Nonpolyposis Colorectal Neoplasms (C0009405)

Definition (MSH) 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.
Concepts Neoplastic Process (T191)
MSH D003123
English Colorectal Neoplasms, Hereditary Nonpolyposis, COLORECTAL NEOPL HEREDITARY NONPOLYPOSIS, HEREDITARY NONPOLYPOSIS COLORECTAL NEOPL, Colorectal Neoplasms, Hereditary Nonpolyposis [Disease/Finding], Familial Nonpolyposis Colon Cancer, Hereditary Nonpolyposis Colorectal Neoplasms
Swedish Icke-polypos kolorektalcancer, ärftlig
Czech kolorektální nádory dědičné nepolypózní
Finnish Periytyvä ei-polypoottinen paksusuolisyöpä
Russian KOLOREKTAL'NYE NOVOOBRAZOVANIIA NASLEDSTVENNYE NEPOLIPOZNYE, NASLEDSTVENNYE NEPOLIPOZNYE KOLOREKTAL'NYE OPUKHOLI, КОЛОРЕКТАЛЬНЫЕ НОВООБРАЗОВАНИЯ НАСЛЕДСТВЕННЫЕ НЕПОЛИПОЗНЫЕ, НАСЛЕДСТВЕННЫЕ НЕПОЛИПОЗНЫЕ КОЛОРЕКТАЛЬНЫЕ ОПУХОЛИ
Japanese リンチ症候群, 遺伝性非ポリポーシス結腸直腸腫瘍, 遺伝性非ポリープ症結腸直腸腫瘍, 遺伝性非ポリポーシス大腸腫瘍, 結腸直腸腫瘍-遺伝性非ポリポーシス, 大腸腫瘍-遺伝性非ポリポーシス, Lynch症候群
Polish Nowotwory jelita grubego dziedziczne niepolipowe, Nowotwory niepolipowate okrężnicy i odbytnicy dziedziczne, Zespół Lynch, Dziedziczny niepolipowaty rak jelita grubego
Norwegian Arvelige ikke-polyposiske kolorektale svulster, Arvelige ikke-polyposiske kolorektale neoplasmer, Arvelige ikke-polyposiske kolorektale tumorer, Arvelige ikke-polyposiske svulster i tykk- og endetarm, Hereditære ikke-polyposiske kolorektale svulster
Portuguese Neoplasias Colorretais não Polipoides Hereditárias, Câncer Colorretal sem Polipose Hereditário, Câncer Colorretal não Polipoide Hereditário, Neoplasia Colorretal Hereditária sem Polipose, Neoplasias Colorretais Hereditárias sem Polipose, Neoplasias Colorretais sem Polipose Hereditárias
French Tumeurs colo-rectales héréditaires sans polypose, Tumeurs colorectales héréditaires sans polypose, Tumeurs colorectales héréditaires non polyposiques
German Erbliche nichtpolypöse kolorektale Tumoren, Kolorektale Tumoren, hereditäre, ohne Polypose, Kolorektale Tumoren, erbliche, ohne Polypose
Italian Neoplasie del colon e del retto, non poliposi ereditaria
Dutch Carcinomen, Heriditaire non-polyposis-colorectum-, Carcinoom, Heriditair non-polyposis-colorectum-, Colorectumcarcinoom, heriditair non-polyposis-, HNPCC, Heriditair non-polyposis-colorectumcarcinoom, syndroom van Lynch
Spanish Neoplasias Colorrectales Hereditarias sin Poliposis, Neoplasias Colorrectales no Poliposis Hereditarios