Familial Colorectal Cancer Type X: the Other Half of Hereditary Nonpolyposis Colon Cancer Syndrome

Overview

Journal Surg Oncol Clin N Am

Specialties General Surgery
Oncology

Date 2009 Oct 2

PMID 19793571

Citations 29

Authors

Noralane M Lindor

Affiliations

Soon will be listed here.

Abstract

Establishing the Amsterdam criteria, based on pedigrees, was essential for defining hereditary nonpolyposis colorectal cancer (HNPCC) syndrome in such a way that the underlying genetic cause could be identified. It is now known that about half of families that fulfill the original Amsterdam criteria have a hereditary DNA mismatch repair (MMR) gene mutation. These families may be said to have Lynch syndrome. The other half of families with HNPCC has no evidence of DNA MMR deficiency, and studies show that these families are different from families with Lynch syndrome. Familial colorectal cancer type X is the name used to refer to the "other half of HNPCC".

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References

Hendriks Y, de Jong A, Morreau H, Tops C, Vasen H, Wijnen J . Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin. 2006; 56(4):213-25. DOI: 10.3322/canjclin.56.4.213. View

Wijnen J, Vasen H, Khan P, Zwinderman A, van der Klift H, Mulder A . Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med. 1998; 339(8):511-8. DOI: 10.1056/NEJM199808203390804. View

Jass J . Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term. World J Gastroenterol. 2006; 12(31):4943-50. PMC: 4087395. DOI: 10.3748/wjg.v12.i31.4943. View

Valle L, Perea J, Carbonell P, Fernandez V, Dotor A, Benitez J . Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status. J Clin Oncol. 2007; 25(7):781-6. DOI: 10.1200/JCO.2006.06.9781. View

Jenkins M, Croitoru M, Monga N, Cleary S, Cotterchio M, Hopper J . Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006; 15(2):312-4. DOI: 10.1158/1055-9965.EPI-05-0793. View

Schiemann U, Muller-Koch Y, Gross M, Daum J, Lohse P, Baretton G . Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: genetic reclassification and correlation with clinical features. Digestion. 2004; 69(3):166-76. DOI: 10.1159/000078223. View

Lindor N, Rabe K, Petersen G, Haile R, Casey G, Baron J . Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA. 2005; 293(16):1979-85. PMC: 2933042. DOI: 10.1001/jama.293.16.1979. View

Vasen H, Watson P, Mecklin J, Lynch H . New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999; 116(6):1453-6. DOI: 10.1016/s0016-5085(99)70510-x. View

Aaltonen L, Johns L, Jarvinen H, Mecklin J, Houlston R . Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res. 2007; 13(1):356-61. DOI: 10.1158/1078-0432.CCR-06-1256. View

10.

Dove-Edwin I, de Jong A, Adams J, Mesher D, Lipton L, Sasieni P . Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. Gastroenterology. 2006; 130(7):1995-2000. DOI: 10.1053/j.gastro.2006.03.018. View

11.

Bisgaard M, Jager A, Myrhoj T, Bernstein I, Nielsen F . Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. Hum Mutat. 2002; 20(1):20-7. DOI: 10.1002/humu.10083. View

12.

Mueller-Koch Y, Vogelsang H, Kopp R, Lohse P, Keller G, Aust D . Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer. Gut. 2005; 54(12):1733-40. PMC: 1774771. DOI: 10.1136/gut.2004.060905. View

13.

Vasen H, Mecklin J, Khan P, Lynch H . The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991; 34(5):424-5. DOI: 10.1007/BF02053699. View

14.

Merg A, Lynch H, Lynch J, Howe J . Hereditary colorectal cancer-part II. Curr Probl Surg. 2005; 42(5):267-333. DOI: 10.1067/j.cpsurg.2005.02.003. View

15.

Renkonen E, Zhang Y, Lohi H, Salovaara R, Abdel-Rahman W, Nilbert M . Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2003; 21(19):3629-37. DOI: 10.1200/JCO.2003.03.181. View

16.

Minoo P, Baker K, Goswami R, Chong G, Foulkes W, Ruszkiewicz A . Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis. Gut. 2006; 55(10):1467-74. PMC: 1856423. DOI: 10.1136/gut.2005.082859. View

17.

Llor X, Pons E, Xicola R, Castells A, Alenda C, Pinol V . Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res. 2005; 11(20):7304-10. DOI: 10.1158/1078-0432.CCR-05-0965. View

18.

Burke W, Petersen G, Lynch P, Botkin J, Daly M, Garber J . Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA. 1997; 277(11):915-9. View

19.

Abdel-Rahman W, Ollikainen M, Kariola R, Jarvinen H, Mecklin J, Nystrom-Lahti M . Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations. Oncogene. 2005; 24(9):1542-51. DOI: 10.1038/sj.onc.1208387. View

20.

Sanchez-de-Abajo A, de la Hoya M, van Puijenbroek M, Tosar A, Lopez-Asenjo J, Diaz-Rubio E . Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways. Clin Cancer Res. 2007; 13(19):5729-35. DOI: 10.1158/1078-0432.CCR-06-2996. View