Hereditary nonpolyposis colorectal cancer overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]
Overview
Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by an increased risk of colorectal cancer and other cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. It accounts for about 3-5% of colorectal cancer cases. HNPCC is subdivided into Lynch Syndrome I (familial colon cancer) and Lynch Syndrome II (other cancer of the gastrointestinal system or the reproductive system). The increased risk for these cancers is due to inherited mutations that degrade the self-repair capability of DNA. In the United States, about 160,000 new cases of colorectal cancer are diagnosed each year. The Amsterdam clinical criteria identifies candidates for genetic testing, and genetic testing can make a diagnosis of HPNCC. Surgery remains the mainstay therapy for HNPCC.[1]
Historical Perspective
Lynch syndrome was named in honor of Dr. Henry T. Lynch, an American physician and professor of medicine at Creighton University Medical Center in 1966.[2][3]
Classification
Hereditary nonpolyposis colorectal cancer may be classified according to MSI-H into 3 subtypes: right-sided poorly differentiated cancers, right-sided mucinous cancers, and adenocarcinomas in any location showing any measurable level of intraepithelial lymphocyte (TIL). In addition, HNPCC can be divided into Lynch syndrome I (familial colon cancer) and Lynch syndrome II (HNPCC associated with other cancers of the gastrointestinal tract or reproductive system).[4]
Pathophysiology
HNPCC is an autosomal dominant genetic disease characterized by the early onset of colon cancer, endometrial cancer and other malignant tumors that arises from genetic mutations, that lead to an accumulation of DNA mismatches (MMR) genes.[5]
Causes
Differentiating Hereditary nonpolyposis colorectal cancer from other Diseases
Epidemiology and Demographics
The prevalence of hereditary nonpolyposis colorectal cancer is approximately 2 - 7% of all diagnosed cases of colorectal cancer.[6]
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
Staging | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
See also
References
- ↑ Hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015
- ↑ http://medicine.creighton.edu/HCC/Welcome%20DrL.htm
- ↑ Lynch HT, Lynch JF (1985). "Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II): a common genotype linked to oncogenes?". Med. Hypotheses. 18 (1): 19–28. PMID 4069033.
- ↑ Hereditary nonpolyposis colorectal cancer. Wikipedia. https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015
- ↑ Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T (2015). "[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review]". Beijing Da Xue Xue Bao (in Chinese). 47 (5): 858–64. PMID 26474631.
- ↑ 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 (1998). "Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease". N. Engl. J. Med. 338 (21): 1481–7. doi:10.1056/NEJM199805213382101. PMID 9593786.