SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 5, 2013, Pages

  He, Huiling ^a   Bronisz, Agnieszka ^b   Liyanarachchi, Sandya ^a   Nagy, Rebecca ^a   Li, Wei ^a   Huang, Yungui ^d   Akagi, Keiko ^a   Saji, Motoyasu ^b   Kula, Dorota ^e   Wojcicka, Anna ^g,h   Sebastian, Nikhil ^a   Wen, Bernard ^a   Puch, Zbigniew ^e   Kalemba, Michal ^e   Stachlewska, Elzbieta ^b   Czetwertynska, Malgorzata ^f   Dlugosinska, Joanna ^f   Dymecka, Kinga ^h   Ploski, Rafal ⁱ   Krawczyk, Marek ^h   Morrison, Patrick J ^j   Ringel, Matthew D ^b   Kloos, Richard T ^b   Jazdzewski, Krystian ^a,h   Symer, David E ^a,b   Vieland, Veronica J ^c,d   Ostrowski, Michael ^b   Jarzab, Barbara ^e   De La Chapelle, Albert ^a,c   more..

^a Human Cancer Genetics Program   (United States)

^b Department of Molecular and Cellular Biochemistry ^*  (Poland)

^c OHIO STATE UNIVERSITY   (United States)

^d THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^e INSTITUTE OF ONCOLOGY   (Poland)

^f INSTITUTE OF ONCOLOGY   (Poland)

^g MEDICAL CENTER FOR POSTGRADUATE EDUCATION   (Poland)

^h Division of Genomic Medicine   (Poland)

ⁱ MEDICAL UNIVERSITY OF WARSAW   (Poland)

^j QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN CDC42; SLIT PROTEIN;

3' UNTRANSLATED REGION; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME INACTIVATION; EXON; GENE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SRGAP1 GENE; THYROID CARCINOMA;

CARCINOMA; CDC42 GTP-BINDING PROTEIN; CELL LINE, TUMOR; COHORT STUDIES; ENZYME ACTIVATION; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GTPASE-ACTIVATING PROTEINS; HEK293 CELLS; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MUTATION, MISSENSE; OHIO; PEDIGREE; POLAND; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; THYROID NEOPLASMS;

EID: 84877710417     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3823     Document Type: Article

References (31)

1. Yu GP, Li JC, Branovan D, McCormick S, Schantz SP. Thyroid cancer incidence and survival in the national cancer institute surveillance, epidemiology, and end results race/ethnicity groups. Thyroid. 2010;20:465-473.
2. Albores-Saavedra J, Henson DE, Glazer E, Schwartz AM. Changing patterns in the incidence and survival of thyroid cancer with follicular phenotype-papillary, follicular, and anaplastic: a morphological and epidemiological study. Endocr Pathol. 2007;18:1-7.
3. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA. 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 Res. 2003; 63:1454-1457.
4. Ciampi R, Nikiforov YE. RET/PTC rearrangements and BRAF mutations in thyroid tumorigenesis. Endocrinology. 2007;148:936-941.
5. Vriens MR, Suh I, Moses W, Kebebew E. Clinical features and genetic predisposition to hereditary nonmedullary thyroid cancer. Thyroid. 2009;19:1343-1349.
6. Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst. 1994;86:1600-1608.
7. Czene K, Lichtenstein P, Hemminki K. Environmental and heritable causes of cancer among 9.6 million individuals in the Swedish family-cancer database. Int J Cancer. 2002;99:260-266.
8. Dong C, Hemminki K. Modification of cancer risks in offspring by sibling and parental cancers from 2,112,616 nuclear families. Int J Cancer. 2001;92:144-150.
9. Malchoff CD, Sarfarazi M, Tendler B, et al. Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. J Clin Endocrinol Metab. 2000;85:1758-1764.
10. Suh I, Filetti S, Vriens MR, et al. Distinct loci on chromosome 1q21 and 6q22 predispose to familial nonmedullary thyroid cancer: A SNP array-based linkage analysis of 38 families. Surgery. 2009;146: 1073-1080.
11. McKay JD, Lesueur F, Jonard L, et al. Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. Am J Hum Genet. 2001;69:440-446.
12. Cavaco BM, Batista PF, Sobrinho LG, Leite V. Mapping a new familial thyroid epithelial neoplasia susceptibility locus to chromosome 8p23.1-p22 by high-density SNP genome-wide linkage analysis. J Clin Endocrinol Metab 2008;93(11):4426-4430.
13. He H, Nagy R, Liyanarachchi S, et al. A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. Cancer Res. 2009;69:625-631.
14. Canzian F, Amati P, Harach HR, et al. A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2. Am J Hum Genet. 1998;63:1743-1748.
15. Gabriel S, Ziaugra L, Tabbaa D. SNP genotyping using the Sequenom Mass ARRAY iPLEX platform. Curr Prot Hum Genet. 2009; 60:2.12.1-2.12.16.
16. Vieland VJ, Huang Y, Seok SC, et al. KELVIN: a software package for rigorous measurement of statistical evidence in human genetics. Hum Hered. 2011;72:276-288.
17. Matise TC, Chen F, Chen W, et al. A second-generation combined linkage physical map of the human genome. Genome Res. 2007; 17:1783-1786.
18. Schweppe RE, Klopper JP, Korch C, et al. Deoxyribonucleic acid profiling analysis of 40 human thyroid cancer cell lines reveals crosscontamination resulting in cell line redundancy and misidentification. J Clin Endocrinol Metab. 2008;93:4331-4341.
19. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7: 248-249.
20. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protocols. 2009;4:1073-1081.
21. Wong K, Ren XR, Huang YZ, et al. Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. Cell. 2001;107:209-221.
22. Meindl A, Hellebrand H, Wiek C, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet. 2010;42(5):410-414.
23. Schork NJ, Murray SS, Frazer KA, Topol EJ. Commonvs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev. 2009;19: 212-219.
24. Ahmed S, Bu W, Lee RT, Maurer-Stroh S, Goh WI. F-BAR domain proteins: Families and function. Commun Integr Biol. 2010;3:116-121.
25. Ghose A, Van Vactor D. GAPs in Slit-Robo signaling. Bioessays. 2002;24:401-404.
26. Moon SY, Zheng Y. Rho GTPase-activating proteins in cell regulation. Trends Cell Biol. 2003;13:13-22.
27. Kandpal RP. Rho GTPase activating proteins in cancer phenotypes. Curr Protein Pept Sci. 2006;7:355-365.
28. Kim TY, Vigil D, Der CJ, Juliano RL. Role of DLC-1, a tumor suppressor protein with Rho GAP activity, in regulation of the cytoskeleton and cell motility. Cancer Metastasis Rev. 2009;28:77-83.
29. Etienne-Manneville S. Cdc42-the centre of polarity. J Cell Sci. 2004;117:1291-1300.
30. Vega FM, Ridley AJ. Rho GTPases in cancer cell biology. FEBS Lett. 2008;582:2093-2101.
31. Vasko V, Espinosa A, Scouten W, et al. Gene expression and functional evidence of epithelial-to-mesenchymal transition in papillary thyroid cancer invasion. Proc Natl Acad Sci USA. 2007;104:2803-2808.