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16 results on '"Biegel, J.A."'

2. Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

Author

Sabatella, M., Mantere, Tuomo, Waanders, E., Neveling, K., Mensenkamp, A.R., Dijk, F. van, Hehir, J.Y., Derks, R, Kwint, M.P., O'Gorman, L., Martins, M., Gidding, C.E.M., Lequin, M.H., Kusters, B., Wesseling, P., Nelen, M.R., Biegel, J.A., Hoischen, A., Jongmans, M.C.J., Kuiper, R.P., Sabatella, M., Mantere, Tuomo, Waanders, E., Neveling, K., Mensenkamp, A.R., Dijk, F. van, Hehir, J.Y., Derks, R, Kwint, M.P., O'Gorman, L., Martins, M., Gidding, C.E.M., Lequin, M.H., Kusters, B., Wesseling, P., Nelen, M.R., Biegel, J.A., Hoischen, A., Jongmans, M.C.J., and Kuiper, R.P.

Abstract

Item does not contain fulltext, In a subset of pediatric cancers, a germline cancer predisposition is highly suspected based on clinical and pathological findings, but genetic evidence is lacking, which hampers genetic counseling and predictive testing in the families involved. We describe a family with two siblings born from healthy parents who were both neonatally diagnosed with atypical teratoid rhabdoid tumor (ATRT). This rare and aggressive pediatric tumor is associated with biallelic inactivation of SMARCB1, and in 30% of the cases, a predisposing germline mutation is involved. Whereas the tumors of both siblings showed loss of expression of SMARCB1 and acquired homozygosity of the locus, whole exome and whole genome sequencing failed to identify germline or somatic SMARCB1 pathogenic mutations. We therefore hypothesized that the insertion of a pathogenic repeat-rich structure might hamper its detection, and we performed optical genome mapping (OGM) as an alternative strategy to identify structural variation in this locus. Using this approach, an insertion of ~2.8 kb within intron 2 of SMARCB1 was detected. Long-range PCR covering this region remained unsuccessful, but PacBio HiFi genome sequencing identified this insertion to be a SINE-VNTR-Alu, subfamily E (SVA-E) retrotransposon element, which was present in a mosaic state in the mother. This SVA-E insertion disrupts correct splicing of the gene, resulting in loss of a functional allele. This case demonstrates the power of OGM and long-read sequencing to identify genomic variations in high-risk cancer-predisposing genes that are refractory to detection with standard techniques, thereby completing the clinical and molecular diagnosis of such complex cases and greatly improving counseling and surveillance of the families involved. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.

Published
2021

6. Detailed molecular analysis of 1p36 in neuroblastoma

Author

White, P.S., primary, Thompson, P.M., additional, Seifried, B.A., additional, Sulman, E.P., additional, Jensen, S.J., additional, Guo, C., additional, Maris, J.M., additional, Hogarty, M.D., additional, Allen, C., additional, Biegel, J.A., additional, Matise, T.C., additional, Gregory, S.G., additional, Reynolds, C.P., additional, and Brodeur, G.M., additional

Published
2001
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13. Physical mapping of the CA6, ENO1, and SLC2A5 (GLUT5) genes and reassignment of SLC2A5 to 1p36.2.

Author

White, P.S., Jensen, S.J., Rajalingam, V., Stairs, D., Sulman, E.P., Maris, J.M., Biegel, J.A., Wooster, R., and Brodeur, G.M.

Subjects
GENE mapping, GENES, CHROMOSOMES, FLUORESCENCE in situ hybridization, GENETIC markers, SOMATIC hybrids
Abstract

Several human malignancies frequently exhibit deletions or rearrangements of the distal short arm of chromosome 1 (1p36), and a number of genetic diseases also map to this region. The carbonic anhydrase (CA6) and α-enolase (ENO1) genes, previously mapped to 1p36, were physically linked in yeast- and P1-artificial chromosome (YAC and PAC) contigs. PACs from the contig were mapped to 1p36.2 by fluorescence in situ hybridization. The ESTs D1S2068, D1S274E, D1S3275, and stSG4370 were also placed in the same contig. The physical map was integrated with the genetic map of chromosome 1 by assignment of genetic markers D1S160, D1S1615, and D1S503 to the contig. Sequencing of the EST clone representing D1S274E indicated that it was derived from the same transcript as D1S2068E and corresponded to the SLC2A5 (GLUT5) gene, previously assigned to 1p31. Reassignment of SLC2A5 to 1p36.2 was confirmed by somatic cell and radiation hybrid mapping panels and was consistent with previous EST mapping data. Sequencing of the EST clone for D1S274E revealed the presence of intronic sequences, suggesting that the clone was derived from an unprocessed message. The presence of unprocessed and/or alternatively spliced EST clones has potential ramifications for EST-based genomic projects. This information should facilitate the mapping of tumor suppressor and genetic disease loci that have been localized to this region. [ABSTRACT FROM AUTHOR]

Published
1998
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16. Molecular cytogenetic studies of malignant pediatric brain tumors

Author

Biegel, J.A., Burk, C.D., Parmiter, A.H., and Emanuel, B.S.

Subjects
Cancer in children -- Research, Human cytogenetics -- Research, Brain cancer -- Research, Health, Science and technology
Abstract

AUTHORS: J.A. Biegel, C.D. Burk, A.H. Parmiter and B.S. Emanuel. The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. According to the authors' abstract of a presentation to the 8th International Congress [...]

Published
1991

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