Simplified identification of Lynch syndrome: a prospective, multicenter study.
Dig Liver Dis
; 44(6): 515-22, 2012 Jun.
Article
em En
| MEDLINE
| ID: mdl-22480969
ABSTRACT
BACKGROUND:
Recommended strategies to screen for Lynch syndrome in colorectal cancer are not applied in daily practice and most of Lynch cases remain undiagnosed.AIMS:
We investigated in routine conditions a strategy that uses simplified clinical criteria plus detection of MisMatch Repair deficiency in tumours to identify Lynch carriers.METHODS:
Colorectal cancer patients that met at least one of three clinical criteria were included (1) colorectal cancer before 50 years, (2) personal history of colorectal or endometrial cancer, (3) first-degree relative history of colorectal or endometrial cancer. All tumours underwent an MisMatch Repair test combining microsatellite instability analysis and MisMatch Repair immunohistochemistry. Patients with an MisMatch Repair-deficient tumour were offered germline testing.RESULTS:
Of the 307 patients fulfilling the clinical criteria, 46 (15%) had a MisMatch Repair-deficient tumour. Amongst them 27 were identified as Lynch carriers (20 with germline mutation 12 MLH1, 7 MSH2, 1 MSH6; 7 highly suspected cases despite failure of genetic testing). The simplified clinical criteria selected a population whose MisMatch Repair-deficient status was highly predictive (59%) of Lynch syndrome.CONCLUSION:
This bio-clinical strategy based on simplified clinical criteria combined with an MisMatch Repair test efficiently detected LS cases and is easy to use in clinical practice, outside expert centres.
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
2_ODS3
Base de dados:
MEDLINE
Assunto principal:
Adenocarcinoma
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Testes Genéticos
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Neoplasias do Endométrio
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
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Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Dig Liver Dis
Ano de publicação:
2012
Tipo de documento:
Article