| Phenotype and clinics | Hereditary non polyposis colorectal carcinoma is an autosomal dominantly inherited predisposition to develop colorectal cancer, endometrial carcinoma and ovary carcinoma, urinary tract carcinomas, stomach, small bowel and biliary tract carcinoma, and brain tumors. Colorectal carcinoma is characterized by early age at onset, predominantly right sided with an excess of synchrounous and metachronous tumors. |
| Neoplastic risk | The risk of colorectal cancer in HNPCC patients is estimates up to 75% by age 75. The average age of diagnosis is 45 years for colorectal cancer. It is interesting to note that the risk of colorectal cancer for women was less that observed for men and average age of diagnosis was delayed. The risk of uterine cancer in HNPCC female is estimated up to 40% and the risk of ovarian cancer is less than 10%. The risk of metachronous colorectal cancer, when limited resection of colon was performed, is estimated to 30% |
| Treatment | Full coloscopy to the caecum is recommended every two years beginning at age 25 years or 5 years before the first cancer. Annual screening for uterine cancer is recommended beginning at the age 35 years. The method of screening include transvaginal ultrasound and hysteroscopy |
| Prognosis | Coloscopy screening at 3 year intervals more than halves the risk of colorectal cancer, prevents colorectal cancer deaths, and decreases overall mortality by about 65% in HNPCC families |
| Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. |
| Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, Chadwick RB, Kääriäinen H, Eskelinen M, Järvinen H, Mecklin JP, de la Chapelle A |
| The New England journal of medicine. 1998 ; 338 (21) : 1481-1487. |
| PMID 9593786 |
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| Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. |
| Järvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomäki P, De La Chapelle A, Mecklin JP |
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| PMID 10784581 |
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| Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. |
| Peltomä P, Vasen HF |
| Gastroenterology. 1997 ; 113 (4) : 1146-1158. |
| PMID 9322509 |
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| Population-based molecular detection of hereditary nonpolyposis colorectal cancer. |
| Salovaara R, Loukola A, Kristo P, Kääriäinen H, Ahtola H, Eskelinen M, Härkönen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Järvinen H, Mecklin JP, Aaltonen LA, de la Chapelle A |
| Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2000 ; 18 (11) : 2193-2200. |
| PMID 10829038 |
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