作者: Huiling He , Rebecca Nagy , Sandya Liyanarachchi , Hong Jiao , Wei Li
DOI: 10.1158/0008-5472.CAN-08-1071
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摘要: Papillary thyroid carcinoma (PTC) displays higher heritability than most other cancers. To search for genes predisposing to PTC, we performed a genome-wide linkage analysis in large family with PTC and melanoma. Among several peaks the highest was at 8q24, maximum nonparametric (NPL) score of 7.03. Linkage then broadened comprise 25 additional families that produced NPL 3.2, P = 0.007 8q24 locus. Fine mapping microsatellite markers compatible locus 10 26 families. In family, ∼320 Kb haplotype shared by individuals melanoma, or benign disease, but not unaffected individuals. A 12 8 SNP within larger 9 which linkage. The is located 2 known overlapping protein-coding genes, thyroglobulin ( TG ) Src-like adaptor SLA ). Resequencing coding control regions did disclose putative mutations patients. Embedded TG-SLA region are three likely noncoding RNA one AK023948 harbors 8-SNP haplotype. reveal candidate mutations. Gene expression indicated significantly down-regulated tumors. gene suseptibility PTC. [Cancer Res 2009;69(2):625–31]