Germline variant in Ctcf links mental retardation to Wilms tumor predisposition.
Por:
Gargallo P, Oltra S, Tasso M, Balaguer J, Yáñez Y, Dolz S, Calabria I, Martínez F, Segura V, Juan-Ribelles A, Llavador M, Castel V, Cañete A and Font de Mora J
Publicada:
1 nov 2022
Ahead of Print:
22 abr 2022
Resumen:
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.
Filiaciones:
Gargallo P:
Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain.
Oncology Department - Health in Code Group, Paterna, Valencia, Spain.
Oltra S:
Genetics Unit, La Fe Hospital, Valencia, Spain
Genetics Department, Valencia University, Valencia, Spain
:
Pediatric Oncology Unit, General University Hospital of Alicante, Alicante, Spain
Balaguer J:
Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain
Pediatric Oncology and Hematology Unit, La Fe University Hospital, Valencia, Spain
Yáñez Y:
Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain
Dolz S:
Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain
Calabria I:
Oncology Department - Health in Code Group, Paterna, Valencia, Spain
Martínez F:
Genetics Unit, La Fe Hospital, Valencia, Spain
Segura V:
Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain
Juan-Ribelles A:
Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain
Pediatric Oncology and Hematology Unit, La Fe University Hospital, Valencia, Spain
Llavador M:
Pathology Department, La Fe University 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
Pediatric Oncology and Hematology Unit, La Fe University Hospital, Valencia, Spain
Font de Mora J:
Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain
Laboratory of Cellular and Molecular Biology, La Fe Health Research Institute, Valencia, Spain
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