Germline and Somatic Mutations in Cyclin-Dependent Kinase Inhibitor Genes CDKN1A, CDKN2B, and CDKN2C in Sporadic Parathyroid Adenomas

Hormones and Cancer

Volumn 4, Issue 5, 2013, Pages 301-307

  Costa Guda, Jessica ^a   Soong, Chen Pang ^a   Parekh, Vaishali I ^b   Agarwal, Sunita K ^b   Arnold, Andrew ^a  

^a UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1A; CYCLIN DEPENDENT KINASE INHIBITOR 2B; CYCLIN DEPENDENT KINASE INHIBITOR 2C; CYCLIN DEPENDENT KINASE INHIBITOR 2D; GENOMIC DNA;

ARTICLE; CELL STRAIN HEK293; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOUTH SQUAMOUS CELL CARCINOMA; MUTATIONAL ANALYSIS; PARATHYROID ADENOMA; PARATHYROID CELL; PARATHYROIDECTOMY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PROTEIN FUNCTION; SITE DIRECTED MUTAGENESIS; SOMATIC MUTATION;

ADENOMA; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CELL CULTURE TECHNIQUES; CYCLIN-DEPENDENT KINASE INHIBITOR P15; CYCLIN-DEPENDENT KINASE INHIBITOR P18; CYCLIN-DEPENDENT KINASE INHIBITOR P21; CYCLIN-DEPENDENT KINASE INHIBITOR PROTEINS; GERM-LINE MUTATION; HEK293 CELLS; HUMANS; HYPERPARATHYROIDISM, PRIMARY; MIDDLE AGED; MUTATION, MISSENSE; PARATHYROID NEOPLASMS;

EID: 84884149259     PISSN: 18688497     EISSN: 18688500     Source Type: Journal    
DOI: 10.1007/s12672-013-0147-9     Document Type: Article

References (28)

1. Costa-Guda J & Arnold A (2013) Hyperparathyroidism. In: Thakker RV, Whyte MP, Eisman JA, & Igarashi T (ed) Genetics of Bone Biology and Skeletal Disease. San Diego, CA, Academic Press, pp 397-408.
2. Cromer MK et al (2012) Identification of somatic mutations in parathyroid tumors using whole-exome sequencing. J Clin Endocrinol Metab 97(9): E1774-E1781.
3. Newey PJ et al (2012) Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas. J Clin Endocrinol Metab 97(10): E1995-E2005.
4. Yi Y, Nowak NJ, Pacchia AL, Morrison C (2008) Chromosome 11 genomic changes in parathyroid adenoma and hyperplasia: array CGH, FISH, and tissue microarrays. Genes Chromosomes Cancer 47(8): 639-648.
5. Westin G, Bjorklund P, Akerstrom G (2009) Molecular genetics of parathyroid disease. World J Surg 33(11): 2224-2233.
6. Pellegata NS et al (2006) Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A 103(42): 15558-15563.
7. Georgitsi M et al (2007) Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab 92(8): 3321-3325.
8. Agarwal SK, Mateo CM, Marx SJ (2009) Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab 94(5): 1826-1834.
9. Costa-Guda J, Marinoni I, Molatore S, Pellegata NS, Arnold A (2011) Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas. J Clin Endocrinol Metab 96(4): E701-E706.
10. Tahara H, Smith AP, Gaz RD, Arnold A (1996) Loss of chromosome arm 9p DNA and analysis of the p16 and p15 cyclin-dependent kinase inhibitor genes in human parathyroid adenomas. J Clin Endocrinol Metab 81(10): 3663-3667.
11. Tahara H et al (1997) Parathyroid tumor suppressor on 1p: analysis of the p18 cyclin-dependent kinase inhibitor gene as a candidate. J Bone Miner Res 12(9): 1330-1334.
12. Staden R (1996) The Staden sequence analysis package. Mol Biotechnol 5(3): 233-241.
13. Shattuck TM et al (2002) Mutational analysis of Smad3, a candidate tumor suppressor implicated in TGF-beta and menin pathways, in parathyroid adenomas and enteropancreatic endocrine tumors. J Clin Endocrinol Metab 87(8): 3911-3914.
14. Ibrahim SO, Lillehaug JR, Vasstrand EN (2003) Mutations of the cell cycle regulatory genes p16INK4A and p21WAF1 and the metastasis-inducing gene S100A4 are infrequent and unrelated to p53 tumour suppressor gene status and data on survival in oropharyngeal squamous cell carcinomas. Anticancer Res 23(6C): 4593-4600.
15. Forbes SA, et al. (2011) COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 39(Database issue): D945-950.
16. Sherry ST et al (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29(1): 308-311.
17. Shiohara M et al (1994) Absence of WAF1 mutations in a variety of human malignancies. Blood 84(11): 3781-3784.
18. McKenzie KE et al (1997) Altered WAF1 genes do not play a role in abnormal cell cycle regulation in breast cancers lacking p53 mutations. Clin Cancer Res 3(9): 1669-1673.
19. Staalesen V, Leirvaag B, Lillehaug JR, Lonning PE (2004) Genetic and epigenetic changes in p21 and p21B do not correlate with resistance to doxorubicin or mitomycin and 5-fluorouracil in locally advanced breast cancer. Clin Cancer Res 10(10): 3438-3443.
20. Lindberg D, Akerstrom G, Westin G (2008) Evaluation of CDKN2C/p18, CDKN1B/p27 and CDKN2B/p15 mRNA expression, and CpG methylation status in sporadic and MEN1-associated pancreatic endocrine tumours. Clin Endocrinol (Oxf) 68(2): 271-277.
21. Blagosklonny MV (2002) Are p27 and p21 cytoplasmic oncoproteins? Cell Cycle 1(6): 391-393.
22. Sherr CJ, Roberts JM (1999) CDK inhibitors: positive and negative regulators of G1-phase progression. Genes Dev 13(12): 1501-1512.
23. Tokumoto M et al (2003) Parathyroid cell growth in patients with advanced secondary hyperparathyroidism: vitamin D receptor and cyclin-dependent kinase inhibitors, p21 and p27. Nephrol Dial Transplant 18(3): iii9-iii12.
24. Franklin DS, Godfrey VL, O'Brien DA, Deng C, Xiong Y (2000) Functional collaboration between different cyclin-dependent kinase inhibitors suppresses tumor growth with distinct tissue specificity. Mol Cell Biol 20(16): 6147-6158.
25. Starker LF et al (2012) Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Hormones & Cancer 3(1-2): 44-51.
26. Vierimaa O et al (2006) Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312(5777): 1228-1230.
27. Kiezun A et al (2012) Exome sequencing and the genetic basis of complex traits. Nat Genet 44(6): 623-630.
28. Keinan A, Clark AG (2012) Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336(6082): 740-743.