A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24

作者: Huiling He , Rebecca Nagy , Sandya Liyanarachchi , Hong Jiao , Wei Li

DOI: 10.1158/0008-5472.CAN-08-1071

关键词:

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]

参考文章(33)
H. Jarosz, A. R. McCall, R. A. Ott, E. Paloyan, A. Armin, Christopher R McHenry, A. M. Lawrence, The incidence of thyroid carcinoma in Hashimoto's thyroiditis. American Surgeon. ,vol. 53, pp. 442- 445 ,(1987)
D.B. Calandra, K.H. Shah, A. McCall, R.A. Ott, E. Paloyan, A.M. Lawrence, The incidence of thyroid carcinoma in patients with Hashimoto's thyroiditis and solitary cold nodules. Surgery. ,vol. 98, pp. 1202- ,(1985)
Kenneth B. Ain, Paolo Gattuso, Xiulong Xu, Richard A. Prinz, Roderick M. Quiros, High Prevalence of BRAF Gene Mutation in Papillary Thyroid Carcinomas and Thyroid Tumor Cell Lines Cancer Research. ,vol. 63, pp. 4561- 4567 ,(2003)
Edna T Kimura, Marina N Nikiforova, Zhaowen Zhu, Jeffrey A Knauf, Yuri E Nikiforov, James A Fagin, None, High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Research. ,vol. 63, pp. 1454- 1457 ,(2003)
James A. Fagin, Familial Nonmedullary Thyroid Carcinoma—The Case for Genetic Susceptibility The Journal of Clinical Endocrinology and Metabolism. ,vol. 82, pp. 342- 344 ,(1997) , 10.1210/JCEM.82.2.3787
H. He, K. Jazdzewski, W. Li, S. Liyanarachchi, R. Nagy, S. Volinia, G. A. Calin, C.-g. Liu, K. Franssila, S. Suster, R. T. Kloos, C. M. Croce, A. de la Chapelle, The role of microRNA genes in papillary thyroid carcinoma Proceedings of the National Academy of Sciences. ,vol. 102, pp. 19075- 19080 ,(2005) , 10.1073/PNAS.0509603102
Carl D. Malchoff, Mansoor Sarfarazi, Beatriz Tendler, Faripour Forouhar, Giles Whalen, Vijay Joshi, Andrew Arnold, Diana M. Malchoff, Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. The Journal of Clinical Endocrinology and Metabolism. ,vol. 85, pp. 1758- 1764 ,(2000) , 10.1210/JCEM.85.5.6557
Yaron Tomer, David A. Greenberg, Erlinda Concepcion, Yoshiyuki Ban, Terry F. Davies, Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases. The Journal of Clinical Endocrinology and Metabolism. ,vol. 87, pp. 404- 407 ,(2002) , 10.1210/JCEM.87.1.8291
Federico Canzian, Patrizia Amati, H. Rubén Harach, Jean-Louis Kraimps, Fabienne Lesueur, Jacques Barbier, Pierre Levillain, Giovanni Romeo, Dominique Bonneau, A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2 American Journal of Human Genetics. ,vol. 63, pp. 1743- 1748 ,(1998) , 10.1086/302164