Genomic Characterization of Papillary Thyroid Cancer Reveals Germline Mutations Associated With Congenital Hypothyroidism
Our analysis of PTC among Indians revealed novel genetic alterations and molecular subtypes. We identified a germline mutation in the <i>DUOX2</i> gene, associated with congenital hypothyroidism, as a potential risk factor of PTC. Additionally, we characterized distinct molecular subtypes, <i>BRAF-RAS</i> driven and iBR driven, and their clinical implications. These findings provide valuable insights into the genetic landscape of thyroid cancer in Indian patients and offer potential avenues for targeted therapies.
Authors
- Priyanka Pange
- Vaishakhi Trivedi (ORCID: https://orcid.org/0000-0003-0783-8140)
- Vanita Noronha (ORCID: https://orcid.org/0000-0002-0191-2744)
- Vijay Patil (ORCID: https://orcid.org/0000-0002-7691-3995)
- Nandini Menon
- Pankaj Chaturvedi (ORCID: https://orcid.org/0000-0002-3520-1342)
- Disha Poojary (ORCID: https://orcid.org/0000-0003-2927-6679)
- Munita Bal (ORCID: https://orcid.org/0000-0002-0345-5620)
- Anuradha Choughule (ORCID: https://orcid.org/0000-0002-9889-2136)
- Pratik Chandrani (ORCID: https://orcid.org/0000-0003-2572-0189)
- Vinod K. Gupta (ORCID: https://orcid.org/0000-0002-7848-4944)
- Amit Dutt (ORCID: https://orcid.org/0000-0002-1119-4774)
- Kumar Prabhash (ORCID: https://orcid.org/0000-0001-8858-5004)
- Minit Shah (ORCID: https://orcid.org/0000-0002-0979-9555)
Institutions
- University of Delhi (IN)
- The University of Melbourne (AU)
- Homi Bhabha National Institute (IN)
- Tata Memorial Hospital (IN)
- Advanced Centre for Treatment, Research and Education in Cancer (IN)
Publication Details
- Journal
- JCO Global Oncology
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1200/go-25-00043
- Citations
- 2
- Primary Topic
- Thyroid Cancer Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 2.59