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Germline variant in Ctcf links mental retardation to Wilms tumor predisposition.
Gargallo, Pablo; Oltra, Silvestre; Tasso, María; Balaguer, Julia; Yáñez, Yania; Dolz, Sandra; Calabria, Inés; Martínez, Francisco; Segura, Vanessa; Juan-Ribelles, Antonio; Llavador, Margarita; Castel, Victoria; Cañete, Adela; Font de Mora, Jaime.
Afiliação
  • Gargallo P; Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain. pablo.gargallo@healthincode.com.
  • Oltra S; Oncology Department - Health in Code Group, Paterna, Valencia, Spain. pablo.gargallo@healthincode.com.
  • Tasso M; Genetics Unit, La Fe Hospital, Valencia, Spain.
  • Balaguer J; Genetics Department, Valencia University, Valencia, Spain.
  • Yáñez Y; Pediatric Oncology Unit, General University Hospital of Alicante, Alicante, Spain.
  • Dolz S; Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain.
  • Calabria I; Pediatric Oncology and Hematology Unit, La Fe University Hospital, Valencia, Spain.
  • Martínez F; Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain.
  • Segura V; Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain.
  • Juan-Ribelles A; Oncology Department - Health in Code Group, Paterna, Valencia, Spain.
  • Llavador M; Genetics Unit, La Fe Hospital, Valencia, Spain.
  • Castel V; Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain.
  • Cañete A; Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain.
  • Font de Mora J; Pediatric Oncology and Hematology Unit, La Fe University Hospital, Valencia, Spain.
Eur J Hum Genet ; 30(11): 1288-1291, 2022 11.
Article em En | MEDLINE | ID: mdl-35459888
CTCF germline mutations have been related to MRD21. We report the first bilateral Wilms tumor suffered by a MRD21 patient carrying an unreported CTCF missense variant in a zinc finger domain of CTCF protein. We found that germline heterozygous variant I446K became homozygous in the tumor due to a loss of heterozygosity rearrangement affecting the whole q arm on chromosome 16. Our findings propose CTCF I446K variant as a link between MRD21 and Wilms tumor predisposition.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tumor de Wilms / Neoplasias Renais / Deficiência Intelectual Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tumor de Wilms / Neoplasias Renais / Deficiência Intelectual Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha