Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in all three family members: Birt-Hogg-Dubé syndrome and Li-Fraumeni syndr...
Saved in:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Other Authors: | |
| Format: | Article |
| Language: | English |
| Published: |
2023
|
| Subjects: | |
| Online Access: | https://hdl.handle.net/10356/170845 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Institution: | Nanyang Technological University |
| Language: | English |
| id |
sg-ntu-dr.10356-170845 |
|---|---|
| record_format |
dspace |
| spelling |
sg-ntu-dr.10356-1708452023-10-22T15:37:49Z Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors van de Beek, Irma Glykofridis, Iris E. Wagner, Anja den Toom, Dorine T. Bongers, Ernie M. H. F. van Leenders, Geert J. L. H. Johannesma, Paul C. Meijers-Heijboer, Hanne E. J. Wolthuis, Rob M. F. van Steensel, Maurice A. M. Dubbink, Hendrikus J. Houweling, Arjan C. Lee Kong Chian School of Medicine (LKCMedicine) Science Brain Neoplasms Carcinoma, Renal Cell We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in all three family members: Birt-Hogg-Dubé syndrome and Li-Fraumeni syndrome. The corresponding genes (FLCN and TP53) are both located on the short arm of chromosome 17. Agency for Science, Technology and Research (A*STAR) Published version The zebrafish experiments mentioned in the discussion were funded by the A*STAR Research Attachment Programme and the Nijbakker Morra stichting 2023-10-18T08:01:31Z 2023-10-18T08:01:31Z 2023 Journal Article van de Beek, I., Glykofridis, I. E., Wagner, A., den Toom, D. T., Bongers, E. M. H. F., van Leenders, G. J. L. H., Johannesma, P. C., Meijers-Heijboer, H. E. J., Wolthuis, R. M. F., van Steensel, M. A. M., Dubbink, H. J. & Houweling, A. C. (2023). Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors. Molecular Genetics and Genomic Medicine, 11(2). https://dx.doi.org/10.1002/mgg3.2098 2324-9269 https://hdl.handle.net/10356/170845 10.1002/mgg3.2098 36382415 2-s2.0-85143209337 2 11 en Molecular Genetics and Genomic Medicine © 2022 The Authors Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. application/pdf |
| institution |
Nanyang Technological University |
| building |
NTU Library |
| continent |
Asia |
| country |
Singapore Singapore |
| content_provider |
NTU Library |
| collection |
DR-NTU |
| language |
English |
| topic |
Science Brain Neoplasms Carcinoma, Renal Cell |
| spellingShingle |
Science Brain Neoplasms Carcinoma, Renal Cell van de Beek, Irma Glykofridis, Iris E. Wagner, Anja den Toom, Dorine T. Bongers, Ernie M. H. F. van Leenders, Geert J. L. H. Johannesma, Paul C. Meijers-Heijboer, Hanne E. J. Wolthuis, Rob M. F. van Steensel, Maurice A. M. Dubbink, Hendrikus J. Houweling, Arjan C. Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors |
| description |
We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in all three family members: Birt-Hogg-Dubé syndrome and Li-Fraumeni syndrome. The corresponding genes (FLCN and TP53) are both located on the short arm of chromosome 17. |
| author2 |
Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet |
Lee Kong Chian School of Medicine (LKCMedicine) van de Beek, Irma Glykofridis, Iris E. Wagner, Anja den Toom, Dorine T. Bongers, Ernie M. H. F. van Leenders, Geert J. L. H. Johannesma, Paul C. Meijers-Heijboer, Hanne E. J. Wolthuis, Rob M. F. van Steensel, Maurice A. M. Dubbink, Hendrikus J. Houweling, Arjan C. |
| format |
Article |
| author |
van de Beek, Irma Glykofridis, Iris E. Wagner, Anja den Toom, Dorine T. Bongers, Ernie M. H. F. van Leenders, Geert J. L. H. Johannesma, Paul C. Meijers-Heijboer, Hanne E. J. Wolthuis, Rob M. F. van Steensel, Maurice A. M. Dubbink, Hendrikus J. Houweling, Arjan C. |
| author_sort |
van de Beek, Irma |
| title |
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors |
| title_short |
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors |
| title_full |
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors |
| title_fullStr |
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors |
| title_full_unstemmed |
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors |
| title_sort |
combined germline pathogenic variants in flcn and tp53 are associated with early onset renal cell carcinoma and brain tumors |
| publishDate |
2023 |
| url |
https://hdl.handle.net/10356/170845 |
| _version_ |
1781793777890885632 |