The identification of Lynch syndrome in British Columbia.
Can J Gastroenterol
; 23(11): 761-7, 2009 Nov.
Article
em En
| MEDLINE
| ID: mdl-19893772
ABSTRACT
OBJECTIVE:
To determine the prevalence of Lynch syndrome mutations in a Canadian hereditary cancer clinic population, and to determine the effectiveness of the program's referral criteria and testing algorithm.METHODS:
A retrospective chart review of all patients who were referred for and received genetic counselling at the BC Cancer Agency's Hereditary Cancer Program for a family history of colon cancer from August 1, 2004, to September 1, 2006, was performed. Charts were reviewed for referral criteria met, cancer history, whether testing was offered and the outcome of testing.RESULTS:
Lynch syndrome was confirmed or highly suspected in 14.3% of index test patients (eight of 56) by the identification of a deleterious mutation or variant likely to be deleterious in either of the hMLH1 or hMSH2 mismatch repair genes. In the program, the two most effective criteria were a personal diagnosis of two or more primary Lynch syndrome-related cancers (one diagnosed at younger than 50 years of age) or two first-degree relatives with a Lynch syndrome-related cancer (both diagnosed at younger than 50 years of age). The respective positive predictive values of these two criteria were calculated to be 66.7% (95% CI 40% to 93%) and 58.3% (95% CI 30.4% to 86.2%).CONCLUSIONS:
The Hereditary Cancer Program developed and successfully implemented an approach that selected individuals at risk for Lynch syndrome with a significant pretest probability of mutation of 14.3%. Improved ascertainment of families with Lynch syndrome will require greater physician awareness of referral criteria, program advances in the testing algorithm and a population-based approach to screening incident colon cancers.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
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Neoplasias Colorretais Hereditárias sem Polipose
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Testes Genéticos
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Proteínas Adaptadoras de Transdução de Sinal
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Proteína 2 Homóloga a MutS
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Detecção Precoce de Câncer
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adult
/
Aged
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Female
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Humans
/
Male
/
Middle aged
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Can J Gastroenterol
Assunto da revista:
GASTROENTEROLOGIA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Canadá