Article
CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function.
The Journal of biological chemistry - 1 Mar 2024
Pires Carolina, Marques Inês J, Valério Mariana, Saramago Ana, Santo Paulo E, Santos Sandra, Silva Margarida, Moura Margarida M, Matos João, Pereira Teresa, Cabrera Rafael, Lousa Diana, Leite Valeriano, Bandeiras Tiago M, Vicente João B, Cavaco Branca M
Abstract excerpt
Approximately 5 to 15% of nonmedullary thyroid cancers (NMTC) present in a familial form (familial nonmedullary thyroid cancers [FNMTC]). The genetic basis of FNMTC remains largely unknown, representing a limitation for diagnostic and clinical management. Recently, germline mutations in DNA repair-related genes have been described in cases with thyroid cancer (TC), suggesting a role in FNMTC etiology. Here, two...
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