RGD Reference Report - Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. - Rat Genome Database

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Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer.

Authors: Myrhoj, T  Andersen, MB  Bernstein, I 
Citation: Myrhoj T, etal., Fam Cancer. 2008 Apr 4;.
RGD ID: 2293502
Pubmed: PMID:18389386   (View Abstract at PubMed)
DOI: DOI:10.1007/s10689-008-9193-9   (Journal Full-text)

Aim The aim of this study was to evaluate if Urine Cytology (UC) is an appropriate screening procedure for detecting urinary tract neoplasia at an early stage in persons at risk in Hereditary Non-Polyposis Colorectal Cancer families. Method In the National Danish HNPCC-register persons at risk were identified in three categories of HNPCC-families (1) families harbouring a disease causing mutation in a Mismatch repair gene (MMR), (2) families fulfilling the Amsterdam I or II criteria and (3) families suspected of HNPCC. In total 3,411 persons were identified and traced in Patobank-the National Danish Pathology database. All UC and UTC (Urinary Tract Tumours) were listed and evaluated. Results 977 persons had a total of 1,868 screening procedures performed. Two of these procedures (0.1%) lead to diagnosis of an asymptomatic urothelial tumour. In ten times as many procedures (22 persons) UC lead to a false positive screening diagnosis. During the study period fourteen persons (1.4%) developed a UTC and five of these were interval tumours. The sensitivity of UC in diagnosing asymptomatic UTC in HNPCC patients was 29%. Twelve of the tumours were found in persons from families with a proven MMR-mutation and eleven out of these were MSH2 mutations (92%, 95% cl 62-100%). Discussion UC is not a proper method of screening for UTC in HNPCC. However, the study can not reveal if screening for UTC in special families ought to be recommended. Consequently, further studies needs to be performed in order to evaluate an appropriate screening programme.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
urinary bladder cancer  IAGP 2293502DNA:mutationRGD 
urinary bladder cancer  ISOMSH2 (Homo sapiens)2293502; 2293502DNA:mutationRGD 

Objects Annotated

Genes (Rattus norvegicus)
Msh2  (mutS homolog 2)

Genes (Mus musculus)
Msh2  (mutS homolog 2)

Genes (Homo sapiens)
MSH2  (mutS homolog 2)

Objects referenced in this article
Gene MSH6 mutS homolog 6 Homo sapiens

Additional Information