A hereditaer és sporadikus colorectalis daganatok genetikája és a genetikai ismeretek jelentosége a mindennapi gyakorlatban: Hereditaer colorectalis daganatok

Translated title of the contribution: Current concepts on the genetics of hereditary and sporadic colorectal cancer and the role of genetics in the patient management: Hereditary colorectal cancer syndromes

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Colorectal cancer (CRC) is the second leading cause of mortality of malignant diseases in Hungary and according to the incidence and prevalence of CRC Hungary is second among European countries. Hence, it is of outstanding interest to know the current concepts on pathogenesis and genetical background of CRC, as well as incorporate this knowledge in the everyday practice. In the first part of the review authors address to discuss the genetical background of hereditary colorectal cancer syndromes. In fact, a positive family history may be found in 20-30% and genetically defined trait (e.g. familial adenomatous polyposis (FAP), hereditary nonpolyposis colorectal cancer (HNPCC) and Peutz-Jeghers-syndrome (PJS)) is responsible for 3-5% of all colon cancers. Germline mutations of tumor suppressor gene, APC (5q21) are found in 70-90% of the cases. Until now more than 300 mutations were identified. Though a typical mutation was not found, the location of the mutation is associated to the clinical phenotype and prognosis. Of note, beside APC mutations, biallelic mutations of the MYH gene may be found in a subset of individuals with FAP. The diagnosis of HNPCC is based on family history and the presence of Amsterdam I-II or Bethesda criteria. The genetic background and clinical phenotype of the syndrome is heterogeneous. Mutations of different mismatch repair genes (mainly hMLH1 or hMSH2) may be identified in most cases. Genetic testing is advised in first degree relatives of FAP patients, if genetic testing is not available colonoscopic surveillance should be done starting at the age of 10-12 years. Due to the high number of mutation genetic testing is difficult in HNPCC families and colonoscopic screening should be advised to affected families.

Original languageHungarian
Pages (from-to)363-368
Number of pages6
JournalOrvosi Hetilap
Volume147
Issue number8
Publication statusPublished - Feb 26 2006

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Hereditary Neoplastic Syndromes
Genetic Phenomena
Colorectal Neoplasms
Mutation
Hereditary Nonpolyposis Colorectal Neoplasms
Adenomatous Polyposis Coli
Genetic Testing
Hungary
Peutz-Jeghers Syndrome
Phenotype
DNA Mismatch Repair
Germ-Line Mutation
Tumor Suppressor Genes
Colonic Neoplasms
Genes
Mortality
Incidence

ASJC Scopus subject areas

  • Medicine(all)

Cite this

@article{86169958753e4396aede348e1a50ed68,
title = "A hereditaer {\'e}s sporadikus colorectalis daganatok genetik{\'a}ja {\'e}s a genetikai ismeretek jelentos{\'e}ge a mindennapi gyakorlatban: Hereditaer colorectalis daganatok",
abstract = "Colorectal cancer (CRC) is the second leading cause of mortality of malignant diseases in Hungary and according to the incidence and prevalence of CRC Hungary is second among European countries. Hence, it is of outstanding interest to know the current concepts on pathogenesis and genetical background of CRC, as well as incorporate this knowledge in the everyday practice. In the first part of the review authors address to discuss the genetical background of hereditary colorectal cancer syndromes. In fact, a positive family history may be found in 20-30{\%} and genetically defined trait (e.g. familial adenomatous polyposis (FAP), hereditary nonpolyposis colorectal cancer (HNPCC) and Peutz-Jeghers-syndrome (PJS)) is responsible for 3-5{\%} of all colon cancers. Germline mutations of tumor suppressor gene, APC (5q21) are found in 70-90{\%} of the cases. Until now more than 300 mutations were identified. Though a typical mutation was not found, the location of the mutation is associated to the clinical phenotype and prognosis. Of note, beside APC mutations, biallelic mutations of the MYH gene may be found in a subset of individuals with FAP. The diagnosis of HNPCC is based on family history and the presence of Amsterdam I-II or Bethesda criteria. The genetic background and clinical phenotype of the syndrome is heterogeneous. Mutations of different mismatch repair genes (mainly hMLH1 or hMSH2) may be identified in most cases. Genetic testing is advised in first degree relatives of FAP patients, if genetic testing is not available colonoscopic surveillance should be done starting at the age of 10-12 years. Due to the high number of mutation genetic testing is difficult in HNPCC families and colonoscopic screening should be advised to affected families.",
keywords = "Colorectal cancer, CRC, FAP, Genetics, HNPCC, Peutz-Jeghers syndrome, Prognosis",
author = "P. Lakatos and L. Lakatos",
year = "2006",
month = "2",
day = "26",
language = "Hungarian",
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pages = "363--368",
journal = "Orvosi Hetilap",
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T1 - A hereditaer és sporadikus colorectalis daganatok genetikája és a genetikai ismeretek jelentosége a mindennapi gyakorlatban

T2 - Hereditaer colorectalis daganatok

AU - Lakatos, P.

AU - Lakatos, L.

PY - 2006/2/26

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N2 - Colorectal cancer (CRC) is the second leading cause of mortality of malignant diseases in Hungary and according to the incidence and prevalence of CRC Hungary is second among European countries. Hence, it is of outstanding interest to know the current concepts on pathogenesis and genetical background of CRC, as well as incorporate this knowledge in the everyday practice. In the first part of the review authors address to discuss the genetical background of hereditary colorectal cancer syndromes. In fact, a positive family history may be found in 20-30% and genetically defined trait (e.g. familial adenomatous polyposis (FAP), hereditary nonpolyposis colorectal cancer (HNPCC) and Peutz-Jeghers-syndrome (PJS)) is responsible for 3-5% of all colon cancers. Germline mutations of tumor suppressor gene, APC (5q21) are found in 70-90% of the cases. Until now more than 300 mutations were identified. Though a typical mutation was not found, the location of the mutation is associated to the clinical phenotype and prognosis. Of note, beside APC mutations, biallelic mutations of the MYH gene may be found in a subset of individuals with FAP. The diagnosis of HNPCC is based on family history and the presence of Amsterdam I-II or Bethesda criteria. The genetic background and clinical phenotype of the syndrome is heterogeneous. Mutations of different mismatch repair genes (mainly hMLH1 or hMSH2) may be identified in most cases. Genetic testing is advised in first degree relatives of FAP patients, if genetic testing is not available colonoscopic surveillance should be done starting at the age of 10-12 years. Due to the high number of mutation genetic testing is difficult in HNPCC families and colonoscopic screening should be advised to affected families.

AB - Colorectal cancer (CRC) is the second leading cause of mortality of malignant diseases in Hungary and according to the incidence and prevalence of CRC Hungary is second among European countries. Hence, it is of outstanding interest to know the current concepts on pathogenesis and genetical background of CRC, as well as incorporate this knowledge in the everyday practice. In the first part of the review authors address to discuss the genetical background of hereditary colorectal cancer syndromes. In fact, a positive family history may be found in 20-30% and genetically defined trait (e.g. familial adenomatous polyposis (FAP), hereditary nonpolyposis colorectal cancer (HNPCC) and Peutz-Jeghers-syndrome (PJS)) is responsible for 3-5% of all colon cancers. Germline mutations of tumor suppressor gene, APC (5q21) are found in 70-90% of the cases. Until now more than 300 mutations were identified. Though a typical mutation was not found, the location of the mutation is associated to the clinical phenotype and prognosis. Of note, beside APC mutations, biallelic mutations of the MYH gene may be found in a subset of individuals with FAP. The diagnosis of HNPCC is based on family history and the presence of Amsterdam I-II or Bethesda criteria. The genetic background and clinical phenotype of the syndrome is heterogeneous. Mutations of different mismatch repair genes (mainly hMLH1 or hMSH2) may be identified in most cases. Genetic testing is advised in first degree relatives of FAP patients, if genetic testing is not available colonoscopic surveillance should be done starting at the age of 10-12 years. Due to the high number of mutation genetic testing is difficult in HNPCC families and colonoscopic screening should be advised to affected families.

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KW - Genetics

KW - HNPCC

KW - Peutz-Jeghers syndrome

KW - Prognosis

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