Germline Mutations in Familial Papillary Thyroid Cancer.

摘要: Thyroid cancer, predominantly of papillary histology (PTC), is a common cancer mostly diagnosed sporadically. Hereditary PTC encountered in ~ 5% cases and may present at an earlier age, with greater risks metastasis recurrence, compared sporadic cases. The molecular basis hereditary unknown most In this study, the genetic three Brazilian families was investigated. Whole exome sequencing (WES) carried out for probands each family, validated, pathogenic/likely pathogenic sequence variants (P/LPSVs) were genotyped additional family members to establish their putative role. Overall, seven P/LPSVs novel genes detected: p.D283N*ANXA3, p.Y157S*NTN4, p.G172W*SERPINA1, p.G188S*FKBP10, p.R937C*PLEKHG5, p.L32Q*P2RX5, p.Q76*SAPCD1. These results indicate that these are seemingly associated PTC, but extension validation other required.