PRJNA668706
A novel pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer
Germline mutations in DNA repair-related genes have been recently reported in cases with familial non-medullary thyroid carcinoma (FNMTC). The aim of this study was to investigate the involvement of DNA repair-related genes in the aetiology of FNMTC in one family and in the Roma ethnic group. A novel founder pathogenic variant was identified, which is likely to underlie thyroid cancer and other cancer manifestations in the Roma population.