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[Families at risk of colon cancer II. Hereditary nonpolyposis colorectal carcinoma].
Vnitr Lek. 2004 Aug; 50(8):606-14.VL

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease characterised by almost inevitable development of colorectal carcinoma and/or endometrium and other defined malignancies in affected individuals. HNPCC is caused by a germline mutation in a mismatch repair genes (MMR). The purpose of this review is to summarize current knowledge regarding HNPCC with the focus on recent data on genetic testing, surveillance guidelines and therapy. Available medical databases were searched from 1998 to May 2003 using the keywords "hereditary nonpolyposis colorectal cancer", followed by further search for particular issues. Additional articles were identified through the reference sections of retrieved articles and from personal archive of authors. Approximately 200 papers on HNPCC are published yearly. The major progress in recent research of HNPCC has been made in the area of genetic testing and clinical surveillance. Current guidelines recommend identification of microsatelite instability in a tumour of affected family member followed by germline testing in this person. Once mutation in particular MMR gene is found, screening of all at risk members is recommended. Alternative approach suggests direct germline testing in unaffected family member provided that the testing in affected member is not possible. Annual colonoscopy examinations starting at 20-25 years and gyneacological examination starting at 30-35 years are recommended in all family members at risk. Recent advances in genetic tests and surveillance strategies result in decreased mortality of HNPCC patient.

Links

clones/clone libraries

Authors+Show Affiliations

Hlavatý T
I. interná klinika Lekárskej fakulty UK a FN, Bratislava, Slovenská republika.
Lukác L
No affiliation info available
Duris I
No affiliation info available

MeSH

Colorectal Neoplasms, Hereditary NonpolyposisGenetic TestingHumansMolecular Diagnostic Techniques

Pub Type(s)

English Abstract
Journal Article
Review

Language

slo

PubMed ID

15521204

Citation

Hlavatý, T, et al. "[Families at Risk of Colon Cancer II. Hereditary Nonpolyposis Colorectal Carcinoma]." Vnitrni Lekarstvi, vol. 50, no. 8, 2004, pp. 606-14.
Hlavatý T, Lukác L, Duris I. [Families at risk of colon cancer II. Hereditary nonpolyposis colorectal carcinoma]. Vnitr Lek. 2004;50(8):606-14.
Hlavatý, T., Lukác, L., & Duris, I. (2004). [Families at risk of colon cancer II. Hereditary nonpolyposis colorectal carcinoma]. Vnitrni Lekarstvi, 50(8), 606-14.
Hlavatý T, Lukác L, Duris I. [Families at Risk of Colon Cancer II. Hereditary Nonpolyposis Colorectal Carcinoma]. Vnitr Lek. 2004;50(8):606-14. PubMed PMID: 15521204.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Families at risk of colon cancer II. Hereditary nonpolyposis colorectal carcinoma]. AU - Hlavatý,T, AU - Lukác,L', AU - Duris,I, PY - 2004/11/4/pubmed PY - 2004/12/16/medline PY - 2004/11/4/entrez SP - 606 EP - 14 JF - Vnitrni lekarstvi JO - Vnitr Lek VL - 50 IS - 8 N2 - Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease characterised by almost inevitable development of colorectal carcinoma and/or endometrium and other defined malignancies in affected individuals. HNPCC is caused by a germline mutation in a mismatch repair genes (MMR). The purpose of this review is to summarize current knowledge regarding HNPCC with the focus on recent data on genetic testing, surveillance guidelines and therapy. Available medical databases were searched from 1998 to May 2003 using the keywords "hereditary nonpolyposis colorectal cancer", followed by further search for particular issues. Additional articles were identified through the reference sections of retrieved articles and from personal archive of authors. Approximately 200 papers on HNPCC are published yearly. The major progress in recent research of HNPCC has been made in the area of genetic testing and clinical surveillance. Current guidelines recommend identification of microsatelite instability in a tumour of affected family member followed by germline testing in this person. Once mutation in particular MMR gene is found, screening of all at risk members is recommended. Alternative approach suggests direct germline testing in unaffected family member provided that the testing in affected member is not possible. Annual colonoscopy examinations starting at 20-25 years and gyneacological examination starting at 30-35 years are recommended in all family members at risk. Recent advances in genetic tests and surveillance strategies result in decreased mortality of HNPCC patient. SN - 0042-773X UR - https://www.unboundmedicine.com/medline/citation/15521204/[Families_at_risk_of_colon_cancer_II__Hereditary_nonpolyposis_colorectal_carcinoma]_ L2 - http://www.diseaseinfosearch.org/result/3345 DB - PRIME DP - Unbound Medicine ER -