Searchable abstracts of presentations at key conferences in endocrinology

ea0099p564 | Thyroid | ECE2024

Pathogenic variants of CHEK2 gene in thyroid cancer (TC) patients with a personal and/or familial history of other malignancies

Kapusta Dominika , Domagała Bartosz , Kapczyński Norbert , Kachnic Marek , Nogieć Anna , Trofimiuk-Muldner Malgorzata , Hubalewska-Dydejczyk Alicja

CHEK2, located on chromosome 22q, is a tumor suppressor gene. ItsÂ’ pathogenic variants are often associated with a tumor predisposition syndrome 4, with an increased risk of breast, prostate and colorectal cancers. There are some reports of an increased risk of papillary thyroid cancer (PTC) in carriers of the CHEK2 pathogenic variants. Current guidelines, however, do not recommend general screening of TC patients. The study assessed the prevalence of pa...