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

    1 month ago - By Springer

    Abstract
    Purpose
    Germline mutations in DNA repair-related genes have been recently reported in cases with familial non-medullary thyroid carcinoma. A Portuguese family from the Roma ethnic group with four members affected with papillary thyroid carcinoma , and three members with multinodular goiter was identified. The aim of this study was to investigate the involvement of DNA repair-related genes in the etiology of FNMTC in this family and in the Roma ethnic group.
    Methods
    Ninety-four hereditary cancer predisposition genes were analyzed through next-generation sequencing. Sanger...
    Read more ...