TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma
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We report a clinical study of 102 Danish patients with multiple primary melanoma (MPM) in which a germline truncating variant in TINF2 (p.(Arg265Ter)) was identified in four unrelated participants. The telomere lengths of three variant carriers were >90% percentile. In a routine diagnostic setting, the variant was identified in two more families, including an additional MPM patient and monozygotic twins with thyroid cancer and other cancer types. A total of 10 individuals from six independent families were confirmed carriers, all with cancer history, predominantly melanoma. Our findings suggest a major role of TINF2 in Danish patients with MPM.
In addition to melanoma, other cancers in the six families include thyroid, renal, breast, and sarcoma, supporting a CPS in which melanoma, thyroid cancer, and sarcoma predominate. Further studies are needed to establish the full spectrum of associated cancer types and characterize lifetime cancer risk in carriers.
Originalsprog | Engelsk |
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Artikelnummer | 100225 |
Tidsskrift | Human Genetics and Genomics Advances |
Vol/bind | 4 |
Udgave nummer | 4 |
Antal sider | 12 |
ISSN | 2666-2477 |
DOI | |
Status | Udgivet - 2023 |
Bibliografisk note
Funding Information:
This study was financially supported by the Independent Research Fund Denmark (M.R.J. https://dff.dk/), Aase og Ejnar Danielsens Fond (21-10-0376) and A.P. Møller Fonden (L-2021-00223). We are grateful for the participating families in the research project. We thank RepeatDx Europe for performance of flow-FISH. M.R.J. included and interviewed all participants in the MPM study. K.A.W.W. T.V.O.H. and M.R.J. analyzed WES results. K.A.W.W. and A.M.J. provided genetic counseling of variant carriers and relatives. M.R.J. imaged genetic variants and telomere length results. P.A.J. performed haplotype analysis. All authors contributed to the manuscript and approved the final manuscript and its submission to American Journal of Human Genetics. The authors declare no competing interests.
Funding Information:
This study was financially supported by the Independent Research Fund Denmark (M.R.J., https://dff.dk/ ), Aase og Ejnar Danielsens Fond ( 21-10-0376 ) and A.P. Møller Fonden ( L-2021-00223 ). We are grateful for the participating families in the research project. We thank RepeatDx Europe for performance of flow-FISH.
Publisher Copyright:
© 2023
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