Familial non-medullary thyroid cancer: unraveling the genetic maze.

摘要: Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all cancers. Out FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for clinician to recognize these phenotypes so that genetic counseling testing can be initiated enable surveillance malignancies family members. The susceptibility chromosomal loci genes 95% cases remain characterized. To date, 4 have been identified (SRGAP1 gene (12q14), TITF-1/NKX2.1 (14q13), FOXE1 (9q22.33) HABP2 (10q25.3)), out which validated by separate study groups. causal located at other 7 FNMTC-associated (TCO (19q13.2), fPTC/ PRN (1q21), FTEN (8p23.1-p22), NMTC1 (2q21), MNG1 (14q32), 6q22, 8q24) yet identified. Increasingly, regulatory mechanisms (miRNA enhancer elements) are recognized affect expression tumorigenesis. With newer sequencing technique, along with functional studies, there progress understanding basis FNMTC. In our review, we summarize studies date provide an update on recently reported including novel SEC23B variant SRGAP1 gene, non-syndromic