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The genetics of HNPCC: application to diagnosis and screening.
Crit Rev Oncol Hematol. 2006 Jun; 58(3):208-20.CR

Abstract

Hereditary nonpolyposis colorectal cancer syndrome (HNPCC; Lynch Syndrome) is the most common form of hereditary colorectal cancers. Predisposed individuals have increased lifetime risk of developing colorectal, endometrial and other cancers. The syndrome is primarily due to heterozygous germline mutations in one of the mismatch repair genes; mainly MLH1, MSH2, MSH6 and PMS2. The resulting mismatch repair deficiency leads to microsatellite instability which is the hallmark of tumors arising within this syndrome, as well as a variable proportion of sporadic tumors. Diagnostic guidelines and criteria for molecular testing of suspected families have been proposed and are continuously updated. However, not all families fulfilling these criteria show mutations in mismatch repair genes and/or microsatellite instability implicating other, as yet unknown, carcinogenic mechanisms and predisposition genes. This subset of tumors is the focus of current clinical and molecular research. This review addresses recent advances in the field of HNPCC research and their applications in the management of affected individuals and families.

Authors+Show Affiliations

Department of Medical Genetics, University of Helsinki, Helsinki, Finland. Wael.Abdel-Rahman@helsinki.fiNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16434208

Citation

Abdel-Rahman, Wael M., et al. "The Genetics of HNPCC: Application to Diagnosis and Screening." Critical Reviews in Oncology/hematology, vol. 58, no. 3, 2006, pp. 208-20.
Abdel-Rahman WM, Mecklin JP, Peltomäki P. The genetics of HNPCC: application to diagnosis and screening. Crit Rev Oncol Hematol. 2006;58(3):208-20.
Abdel-Rahman, W. M., Mecklin, J. P., & Peltomäki, P. (2006). The genetics of HNPCC: application to diagnosis and screening. Critical Reviews in Oncology/hematology, 58(3), 208-20.
Abdel-Rahman WM, Mecklin JP, Peltomäki P. The Genetics of HNPCC: Application to Diagnosis and Screening. Crit Rev Oncol Hematol. 2006;58(3):208-20. PubMed PMID: 16434208.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The genetics of HNPCC: application to diagnosis and screening. AU - Abdel-Rahman,Wael M, AU - Mecklin,Jukka-Pekka, AU - Peltomäki,Päivi, Y1 - 2006/01/23/ PY - 2005/08/30/received PY - 2005/10/30/revised PY - 2005/11/09/accepted PY - 2006/1/26/pubmed PY - 2006/9/9/medline PY - 2006/1/26/entrez SP - 208 EP - 20 JF - Critical reviews in oncology/hematology JO - Crit. Rev. Oncol. Hematol. VL - 58 IS - 3 N2 - Hereditary nonpolyposis colorectal cancer syndrome (HNPCC; Lynch Syndrome) is the most common form of hereditary colorectal cancers. Predisposed individuals have increased lifetime risk of developing colorectal, endometrial and other cancers. The syndrome is primarily due to heterozygous germline mutations in one of the mismatch repair genes; mainly MLH1, MSH2, MSH6 and PMS2. The resulting mismatch repair deficiency leads to microsatellite instability which is the hallmark of tumors arising within this syndrome, as well as a variable proportion of sporadic tumors. Diagnostic guidelines and criteria for molecular testing of suspected families have been proposed and are continuously updated. However, not all families fulfilling these criteria show mutations in mismatch repair genes and/or microsatellite instability implicating other, as yet unknown, carcinogenic mechanisms and predisposition genes. This subset of tumors is the focus of current clinical and molecular research. This review addresses recent advances in the field of HNPCC research and their applications in the management of affected individuals and families. SN - 1040-8428 UR - https://www.unboundmedicine.com/medline/citation/16434208/The_genetics_of_HNPCC:_application_to_diagnosis_and_screening_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1040-8428(05)00225-8 DB - PRIME DP - Unbound Medicine ER -