Novel truncating germline variant reinforces <i>TINF2</i> as a susceptibility gene for familial non-medullary thyroid cancer
Our results reinforce the <i>TINF2</i> gene as a susceptibility cause of FNMTC suggesting the importance of location of frameshift variants in <i>TINF2</i>. According to our data and previous literature, <i>TINF2</i> pathogenic variants appear to be a significant risk factor for the development of NMTC and/or melanoma.
Authors
- Orland Dı́ez (ORCID: https://orcid.org/0000-0001-7339-0570)
- Irene Halperín (ORCID: https://orcid.org/0000-0003-3151-5990)
- Josep Oriola (ORCID: https://orcid.org/0000-0002-8743-7277)
- Anna Tenés
- Miriam Masas
- Rafael Durán (ORCID: https://orcid.org/0000-0003-2610-9517)
- Mireia Mora (ORCID: https://orcid.org/0000-0002-5887-5016)
- Aida Orois (ORCID: https://orcid.org/0000-0001-7897-7899)
- Sandra Martínez (ORCID: https://orcid.org/0000-0002-6611-2924)
- A Bernal
Institutions
- Departament de Salut (ES)
- Hospital Clínic de Barcelona (ES)
- Vall d'Hebron Hospital Universitari (ES)
- Hospital General de Elda (ES)
- Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES)
- Vall d'Hebron Institute of Oncology (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-08-05
- DOI
- https://doi.org/10.1136/jmg-2024-110185
- Citations
- 1
- Primary Topic
- Thyroid Cancer Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.36