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Article

A pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer.

Endocrine - 1 Sept 2021

Pires Carolina, Marques Inês Jorge, Dias Daniela, Saramago Ana, Leite Valeriano, Cavaco Branca Maria

Abstract excerpt

PURPOSE: Germline mutations in DNA repair-related genes have been recently reported in cases with familial non-medullary thyroid carcinoma (FNMTC). A Portuguese family from the Roma ethnic group with four members affected with papillary thyroid carcinoma (PTC), and three members with multinodular goiter (MNG) was identified. The aim of this study was to investigate the involvement of DNA repair-related genes in...

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PMID: 33683595
DOI: 10.1007/s12020-021-02660-x

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