Germline HABP2 mutation causing familial nonmedullary thyroid cancer

New England Journal of Medicine

Volumn 373, Issue 5, 2015, Pages 448-455

  Gara, Sudheer Kumar ^a   Jia, Li ^a   Merino, Maria J ^a   Agarwal, Sunita K ^b   Zhang, Lisa ^a   Cam, Maggie ^a   Patel, Dhaval ^a   Kebebew, Electron ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PLASMA PROTEIN; PROTEIN HABP2; UNCLASSIFIED DRUG; HABP2 PROTEIN, HUMAN; SERINE PROTEINASE;

3T3 CELL LINE; ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CANCER SCREENING; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASTIC NEVUS; ECHOGRAPHY; EXOME; FAMILIAL CANCER; FEMALE; GENE DOSAGE; GENE FUNCTION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GERMLINE MUTATION; HABP2 GENE; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MALE; MALIGNANT TRANSFORMATION; MIDDLE AGED; MOUSE; NEXT GENERATION SEQUENCING; NONHUMAN; PAPILLARY THYROID CANCER; PRIORITY JOURNAL; PROTEIN EXPRESSION; THYROID ADENOMA; THYROID CANCER; THYROID NODULE; TUMOR SUPPRESSOR GENE; ADENOMA; ADOLESCENT; CASE REPORT; CHILD; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; METABOLISM; PATHOLOGY; PEDIGREE; THYROID TUMOR; YOUNG ADULT;

ADENOMA; ADOLESCENT; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES; THYROID NEOPLASMS; YOUNG ADULT;

EID: 84938346586     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1502449     Document Type: Article

References (25)

1. Moses W, Weng J, Kebebew E. Prevalence, clinicopathologic features, and somatic genetic mutation profile in familial versus sporadic nonmedullary thyroid cancer. Thyroid 2011;21:367-71.
2. Vriens MR, Suh I, Moses W, Kebebew E. Clinical features and genetic predisposition to hereditary nonmedullary thyroid cancer. Thyroid 2009;19:1343-9.
3. Slade I, Bacchelli C, Davies H, et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet 2011;48:273-8.
4. Uchino S, Noguchi S, Kawamoto H, et al. Familial nonmedullary thyroid carcinoma characterized by multifocality and a high recurrence rate in a large study population. World J Surg 2002;26:897-902.
5. Iacobone M, Jansson S, Barczyński M, Goretzki P. Multifocal papillary thyroid carcinoma - a consensus report of the European Society of Endocrine Surgeons (ESES). Langenbecks Arch Surg 2014;399:141-54.
6. He H, Bronisz A, Liyanarachchi S, et al. SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility. J Clin Endocrinol Metab 2013;98(5):E973-E980.
7. Pereira JS, da Silva JG, Tomaz RA, et al. Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC). Endocrine 2015;49:204-14.
8. Ngan ES, Lang BH, Liu T, et al. A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. J Natl Cancer Inst 2009;101:162-75.
9. Parr C, Watkins G, Mansel RE, Jiang WG. The hepatocyte growth factor regulatory factors in human breast cancer. Clin Cancer Res 2004;10:202-11.
10. Schmeidler-Sapiro KT, Ratnoff OD, Gordon EM. Mitogenic effects of coagulation factor XII and factor XIIa on HepG2 cells. Proc Natl Acad Sci U S A 1991;88:4382-5.
11. Uhlén M, Fagerberg L, Hallström BM, et al. Proteomics: tissue-based map of the human proteome. Science 2015;347:1260419.
12. Choi-Miura NH, Tobe T, Sumiya J, et al. Purification and characterization of a novel hyaluronan-binding protein (PHBP) from human plasma: it has three EGF, a kringle and a serine protease domain, similar to hepatocyte growth factor activator. J Biochem 1996;119:1157-65.
13. Römisch J, Vermöhlen S, Feussner A, Stöhr H. The FVII activating protease cleaves single-chain plasminogen activators. Haemostasis 1999;29:292-9.
14. Choi-Miura NH, Yoda M, Saito K, Takahashi K, Tomita M. Identification of the substrates for plasma hyaluronan binding protein. Biol Pharm Bull 2001;24:140-3.
15. Weisbach V, Ruppel R, Eckstein R. The Marburg I polymorphism of factor VII-activating protease and the risk of venous thromboembolism. Thromb Haemost 2007;97:870-2.
16. Franchi F, Martinelli I, Biguzzi E, Bucciarelli P, Mannucci PM. Marburg I polymorphism of factor VII-activating protease and risk of venous thromboembolism. Blood 2006;107:1731.
17. Hoppe B, Tolou F, Radtke H, Kiesewetter H, Dörner T, Salama A. Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism. Blood 2005;105:1549-51.
18. Sidelmann JJ, Vitzthum F, Funding E, Münster AM, Gram J, Jespersen J. Factor VII-activating protease in patients with acute deep venous thrombosis. Thromb Res 2008;122:848-53.
19. Ahmad-Nejad P, Dempfle CE, Weiss C, Bugert P, Borggrefe M, Neumaier M. The G534E-polymorphism of the gene encoding the factor VII-activating protease is a risk factor for venous thrombosis and recurrent events. Thromb Res 2012;130:441-4.
20. van Minkelen R, de Visser MC, Vos HL, Bertina RM, Rosendaal FR. The Marburg I polymorphism of factor VII-activating protease is not associated with venous thrombosis. Blood 2005;105:4898-9.
21. Martinez-Palacian A, Kanse SM, Weiskirchen R. Factor VII activating protease (FSAP): a novel protective factor in liver fibrosis. Proteomics Clin Appl 2014;8:438-46.
22. Karbownik MS, Nowak JZ. Hyaluronan: towards novel anti-cancer therapeutics. Pharmacol Rep 2013;65:1056-74.
23. Willis A, Jung EJ, Wakefield T, Chen X. Mutant p53 exerts a dominant negative effect by preventing wild-type p53 from binding to the promoter of its target genes. Oncogene 2004;23:2330-8.
24. de Vries A, Flores ER, Miranda B, et al. Targeted point mutations of p53 lead to dominant-negative inhibition of wild-type p53 function. Proc Natl Acad Sci U S A 2002;99:2948-53.
25. Chenevix-Trench G, Spurdle AB, Gatei M, et al. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 2002;94:205-15. [Erratum, J Natl Cancer Inst 2002;94:952.]