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dc.contributor.author
Parma, Diana Lidia  
dc.contributor.author
Ferrer, Marcela Maria  
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Luce, Leonela Natalia  
dc.contributor.author
Giliberto, Florencia  
dc.contributor.author
Szijan, Irene  
dc.date.available
2018-12-18T16:40:04Z  
dc.date.issued
2017-12  
dc.identifier.citation
Parma, Diana Lidia; Ferrer, Marcela Maria; Luce, Leonela Natalia; Giliberto, Florencia; Szijan, Irene; RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling; Public Library of Science; Plos One; 12; 12; 12-2017  
dc.identifier.issn
1932-6203  
dc.identifier.uri
http://hdl.handle.net/11336/66661  
dc.description.abstract
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagnosis is critical for survival and eye preservation. Unilateral retinoblastoma is mostly non-heritable and results from two somatic mutations whereas bilateral retinoblastoma is heritable and results from one germline and one somatic mutation, both have high penetrance, 90%. The purpose of this study was to identify causative RB1 mutations in RB patients with different clinical presentations. A comprehensive approach was used to study a cohort of 34 patients with unilateral, bilateral and trilateral retinoblastoma. Blood and tumor DNA was analyzed by sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Validation of an insertion mutation was performed by cloning the PCR product. Most of the patients in our cohort had unilateral RB, eight patients had bilateral RB and one patient had a trilateral tumor with ocular and suprasellar/sellar locations. Other tumors in addition to retinoblastoma were also found in the affected families. One patient had two syndromes, retinoblastoma and schwannomatosis, and another RB patient had a father with a retinoma. Five out of the 25 unilateral RB patients carried germinal mutations (20%), which were mostly missense mutations. The bilateral and trilateral patients carried splice-site, nonsense and frameshift mutations as well as a whole RB1 gene deletion. Missense mutations were associated with mild phenotype: unilateral retinoblastoma, retinoma or no tumor. In this study we identified causative RB1 mutations in most bilateral RB patients and in some unilateral RB patients, including five novel mutations. These data are crucial for genetic counseling and confirm the need to perform complete genetic screening for RB1 mutations in both constitutional and tumor tissues.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Public Library of Science  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
Retinoblastoma  
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Mutations  
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Rb1 Gene  
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Genetic Counseling  
dc.subject.classification
Bioquímica y Biología Molecular  
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Ciencias Biológicas  
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CIENCIAS NATURALES Y EXACTAS  
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Oncología  
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Medicina Clínica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
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Genética Humana  
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Medicina Básica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2018-11-02T17:29:30Z  
dc.journal.volume
12  
dc.journal.number
12  
dc.journal.pais
Estados Unidos  
dc.journal.ciudad
San Francisco  
dc.description.fil
Fil: Parma, Diana Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina  
dc.description.fil
Fil: Ferrer, Marcela Maria. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina  
dc.description.fil
Fil: Luce, Leonela Natalia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina  
dc.description.fil
Fil: Giliberto, Florencia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina  
dc.description.fil
Fil: Szijan, Irene. Universidad de Buenos Aires; Argentina  
dc.journal.title
Plos One  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1371/journal.pone.0189736  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0189736