Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
Genes Chromosomes Cancer
; 48(7): 533-8, 2009 Jul.
Article
en En
| MEDLINE
| ID: mdl-19373776
ABSTRACT
Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present. This study did not identify any cases of breast or ovarian cancer in a cohort of equivalent power to that reported previously. These results provide clinical reassurance that at present there is no evidence for breast cancer screening above standard practice for individuals with SCS.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Acrocefalosindactilia
/
Neoplasias de la Mama
/
Proteínas Nucleares
/
Proteína 1 Relacionada con Twist
Tipo de estudio:
Clinical_trials
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
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Male
/
Middle aged
País/Región como asunto:
Oceania
Idioma:
En
Revista:
Genes Chromosomes Cancer
Asunto de la revista:
BIOLOGIA MOLECULAR
/
NEOPLASIAS
Año:
2009
Tipo del documento:
Article
País de afiliación:
Australia