Impact of RB1 gene screening from blood collected on a single day from 411 family members of 113 Retinoblastoma survivors in India.
Eye (Lond)
; 38(8): 1575-1580, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38341497
ABSTRACT
OBJECTIVES:
To analyse the profile and implication of genetic testing in a cohort of retinoblastoma (RB) patients and their families conducted on a single day during World Retinoblastoma Awareness Week 2017.METHODS:
Retrospective analysis of blood samples were collected from 411 subjects, including 113 probands at a camp organised for RB awareness and were analysed for RB1 mutations by Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA). If germline mutations were detected, the parents and siblings of the proband were tested for the same mutation.RESULTS:
Germline RB1 mutations were identified in 61/113(54%) probands with a mutation detection rate of 96% (47/49) and 22% (14/64) for bilateral and unilateral RB, respectively. Ten novel pathogenic mutations were identified. Splice mutation was most common (31%) followed by nonsense mutation (26%). The mean age at RB diagnosis was significantly lower in patients having germline RB1 mutation (mean 10.7 months ±2.5) compared to those without (mean 27.2 months ±6.5) (p = <0.0001). Parental transmission of the mutant allele was detected in 15/61(25%) cases of which 11(18%) parents were unaffected indicating incomplete penetrance. The origin of the variant allele was both paternal (n = 7) and maternal (n = 4) wherein 5 were bilateral and 6 unilateral.CONCLUSIONS:
The detection of a germline mutation impacts the proband and family members due to its implications on change in prognosis, frequency of subsequent evaluations, screening for ocular and non-ocular cancers, and surveillance of family and future progeny.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retinoblastoma
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Pruebas Genéticas
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Mutación de Línea Germinal
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Neoplasias de la Retina
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Proteínas de Unión a Retinoblastoma
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Eye (Lond)
Asunto de la revista:
OFTALMOLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
India