Frequency of germline PTEN mutations in differentiated thyroid cancer

Thyroid

Volumn 21, Issue 5, 2011, Pages 505-510

  Nagy, Rebecca ^a   Ganapathi, Shireen ^b   Comeras, Ilene ^a   Peterson, Charissa ^b   Orloff, Mohammed ^b,c   Porter, Kyle ^a   Eng, Charis ^b,c   Ringel, Matthew D ^a   Kloos, Richard T ^a  

^a THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

^c TAUSSIG CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; COWDEN SYNDROME; DIFFERENTIATED THYROID CANCER; FAMILY HISTORY; FEMALE; FOLLICULAR THYROID CARCINOMA; GENE MUTATION; HEAD CIRCUMFERENCE; HUMAN; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; PAPILLARY THYROID CARCINOMA; PRIORITY JOURNAL; PTEN GENE; SCHOOL CHILD; TUMOR GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CELL DIFFERENTIATION; CHILD; GERM-LINE MUTATION; HUMANS; MACROCEPHALY; MIDDLE AGED; MODELS, GENETIC; POLYMERASE CHAIN REACTION; PTEN PHOSPHOHYDROLASE; THYROID NEOPLASMS;

EID: 79957482452     PISSN: 10507256     EISSN: 15579077     Source Type: Journal    
DOI: 10.1089/thy.2010.0365     Document Type: Article

References (31)

1. Zhou XP, Hampel H, Thiele H, Gorlin RJ, Hennekam R, Parisi M, Winter RM, Eng C 2001 Association of germline mutation in the PTEN tumour suppressor gene and a subset of Proteus and Proteus-like syndromes. Lancet 358: 210-211. (Pubitemid 32718548)
2. Gorlin RJ, Cohen MM, Condon LM, Burke BA 1992 Bannayan- Riley-Ruvalcaba syndrome. Am J Hum Genet 44:307-314.
3. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PLM, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson A-L, Bonnetblanc J-M, Bressieux J-M, Cabarrot-Moreau A, Chompret A, Demange L, Eeles R, Yahanda AM, Fearon ER, Fricker J-P, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, LePrat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler S, Woods CG, Robinson BG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C 1998 Mutation spectrum and genotypephenotype analyses in Cowden disease and Bannayan- Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7:507-515. (Pubitemid 28120643)
4. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dazouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KA, Parisi M, Pober B, Romano C, Tolmie JL, Trembath R, Winter RM, Zackai EH, Zori RT, Weng LP, Dahia PLM, Eng C 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8:1461-1472. (Pubitemid 29374079)
5. Nelen MR, Padberg GW, Peeters EAJ, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MMM, Easton DF, Eeles RA, Hodgson S, Mulvihill JJ, Murday VA, Tucker MA, Mariman ECM, Starink TM, Ponder BAJ, Ropers HH, Kremer H, Longy M, Eng C 1996 Localization of the gene for Cowden disease to 10q22-23. Nat Genet 13:114-116. (Pubitemid 126528240)
6. Nelen MR, van Staveren CG, Peeters EAJ, Ben Hassel M, Gorlin RJ, Hamm H, Lindboe CF, Fryns J-P, Sijmons RH, Woods DG, Mariman ECM, Padberg GW, Kremer H 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 6:1383-1387. (Pubitemid 27351082)
7. Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16:64-67. (Pubitemid 27198157)
8. Marsh DJ, Caron S, Dahia PLM, Kum JB, Frayling IM, Tomlinson IPM, Hughes KS, Hodgson SV, Murday VA, Houlston R, Eng C 1998 Germline PTEN mutations in Cowden syndrome-like families. J Med Genet 35:881-885. (Pubitemid 28486612)
9. Salem OS, Steck WD 1983 Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature. JAmAcad Dermatol 8:686-696. (Pubitemid 13129989)
10. Starink TM, van der Veen JPW, Arwert F, de Waal LP, de Lange GG, Gille JJP, Eriksson AW 1986 The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 29:222-233. (Pubitemid 16136974)
11. Eng C 2000 Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 37:828-830.
12. Hanssen AMN, Fryns JP 1995 Cowden syndrome. J Med Genet 32:117-119.
13. Longy M, Lacombe D 1996 Cowden disease. Report of a family and review. Ann Génet 39:35-42. (Pubitemid 26143482)
14. Harach HR, Soubeyran I, Brown A, Bonneau D, Longy M 1999 Thyroid pathologic findings in patients with Cowden disease. Ann Diagn Pathol 3:331-340.
15. NCCN 2009 The NCCN genetic familial high-risk assessment: breast and ovarian (version 2009). In: Clinical Practice Guidelines in Oncology. www.nccn.org.
16. Zbuk KM, Eng C 2007 Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer 7:35-45. (Pubitemid 46020845)
17. Hall JG, Foster-Iskenius UG, Allanson J 1989 Head Circumference. Oxford University Press, New York.
18. WHO 2004. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Endocrine Organs. IARC Press, Lyon.
19. Mutter GL, Lin MC, Fitzgerald JT, Kum JB, Baak JP, Lees JA, Weng LP, Eng C 2000 Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers. J Natl Cancer Inst 92:924-930.
20. Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ 2003 High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 49:853-860. (Pubitemid 36623462)
21. Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol- 3-kinase/Akt pathway. Am J Hum Genet 73:404-411. (Pubitemid 36921003)
22. Davies L, Welch HG 2006 Increasing incidence of thyroid cancer in the United States, 1973-2002. J Am Med Assoc 295:2164-2167.
23. Morelli A, Falchetti A, Martineti V, Becherini L, Mark M, Friedman E, Brandi ML 2000 MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1. Eur J Endocrinol 142:131-137. (Pubitemid 30121025)
24. Fodde R, Losekoot M 1994 Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mutat 3: 83-94. (Pubitemid 24077224)
25. Wu Y, Stulp RP, Elfferich P, Osinga J, Buys CH, Hofstra RM 1999 Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE. Nucleic Acids Res 27:e9.
26. Chibon F, Primois C, Bressieux JM, Lacombe D, Lok C, Mauriac L, Taieb A, Longy M 2008 Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. J Med Genet 45:657-665.
27. Roche AF, Mukherjee D, Guo SM, Moore WM 1987 Head circumference reference data: birth to 18 years. Pediatrics 79:706-712. (Pubitemid 17087135)
28. NCCN 2010 The NCCN genetic familial high-risk assessment: breast and ovarian (version 2010). In: Clinical Practice Guidelines in Oncology. www.nccn.org.
29. Bushby KM, Cole T, Matthews JN, Goodship JA 1992 Centiles for adult head circumference. Arch Dis Child 67:1286-1287.
30. Du L, Zhuang Z, Guan H, Xing J, Tang X, Wang L, Wang Z, Wang H, Liu Y, Su W, Benson S, Gallagher S, Viscusi D, Chen W 2008 Head-and-face anthropometric survey of Chinese workers. Ann Occup Hyg 52:773-782.
31. Bale SJ, Amos CI, Parry DM, Bale AE 1991 Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I. Am J Med Genet 40:206-210.