Outpatient clinic for genetic counseling and gene testing of retinoblastoma.
Int J Clin Oncol
; 9(1): 25-30, 2004 Feb.
Article
em En
| MEDLINE
| ID: mdl-15162822
ABSTRACT
We report on the genetic counseling and gene testing of patients with retinoblastoma who visited the National Cancer Center Hospital, Tokyo, from April 1997 through September 2003. During this period, 73 probands visited the clinic, and gene testing was performed in 51 individuals. Germline mutations of the RBI gene were detected in 20 individuals (39%); the frequencies were 82% (9/11) in bilateral/familial retinoblastoma, 50% (2/4) in unilateral/familial retinoblastoma, 50% (8/16) in bilateral/nonfamilial retinoblastoma, and 5% (1/20) in unilateral/nonfamilial retinoblastoma. Gene testing is indicated in the medical practice of hereditary retinoblastoma for familial risk assessment, while prior counseling is important for an understanding of the risks and benefits of gene testing. With improvements in patient prognosis, counseling for adult survivors is increasing in importance. Assessment of genetic risk to the offspring and prevention of secondary cancer are the primary issues of concern. Presymptomatic diagnosis of infants is effective for the proper assessment of the genetic risk and for making follow-up schedules for the detection of the tumor at an early stage.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Contexto em Saúde:
2_ODS3
Problema de saúde:
2_muertes_prematuras_enfermedades_notrasmisibles
Assunto principal:
Retinoblastoma
/
Testes Genéticos
/
Neoplasias da Retina
/
Aconselhamento Genético
Tipo de estudo:
Incidence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Int J Clin Oncol
Assunto da revista:
NEOPLASIAS
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Japão