Predicting PTEN mutations: An evaluation of cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

Journal of Medical Genetics

Volumn 48, Issue 8, 2011, Pages 505-512

  Pilarski, Robert ^a,b   Stephens, Julie A ^a   Noss, Ryan ^a,b   Fisher, James L ^b   Prior, Thomas W ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADULT; ARTICLE; BANNAYAN RILEY RUVALCABA SYNDROME; BREAST CANCER; BREAST DISEASE; CLINICAL FEATURE; CLINICAL PRACTICE; CONTROLLED STUDY; COWDEN SYNDROME; DIGESTIVE SYSTEM INJURY; ENDOMETRIUM CANCER; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HETEROZYGOTE; HUMAN; LIPOMA; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; PAPULE; PREDICTION; PRIORITY JOURNAL; SEX DIFFERENCE; THYROID DISEASE; TRICHILEMMOMA; UTERUS MYOMA;

ADULT; COHORT STUDIES; EXONS; GENOTYPE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; LOGISTIC MODELS; MUTATION; PHENOTYPE; PTEN PHOSPHOHYDROLASE;

EID: 79961129115     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2011.088807     Document Type: Article

References (38)

1. 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. Localization of the gene for Cowden disease to 10q22-23. Nat Genet 1996;13:114-16.
2. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000;37:828-30.
3. Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 2004;41:323-6.
4. Zbuk KM, Stein JL, Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. http://www.genetests.org 2006.
5. 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. Germline mutations in the PTEN/ MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997;6:1383-7.
6. Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:64-7.
7. 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. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998;7:507-15.
8. Tsou HC, Teng DH, Ping XL, Brancolini V, Davis T, Hu R, Xie XX, Gruener AC, Schrager CA, Christiano AM, Eng C, Steck P, Ott J, Tavtigian SV, Peacocke M. The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet 1997;61:1036-43.
9. Nelen MR, Kremer H, Konings IBM, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns J-P, Hamel B, Hoefsloot LH, Peeters EAJ, Padberg GW. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999;7:267-73.
10. Chibon F, Primois C, Bressieux JM, Lacombe D, Lok C, Mauriac L, Taieb A, Longy M. Contribution of PTEN large rearrangements in Cowden disease: a MAPH screening approach. J Med Genet 2008;45:657-65.
11. 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. 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 2003;73:404-11.
12. Gorlin RJ, Cohen MM, Condon LM, Burke BA. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992;44:307-14.
13. 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. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8:1461-72.
14. Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns 2009;18:13-27.
15. Eng C. PTEN: One Gene, Many Syndromes. Hum Mutat 2003;22:183-98.
16. Marsh DJ, Roth S, Lunetta KL, Hemminki A, Dahia PL, Sistonen P, Zheng Z, Caron S, van Orsouw NJ, Bodmer WF, Cottrell SE, Dunlop MG, Eccles D, Hodgson SV, Jarvinen H, Kellokumpu I, Markie D, Neale K, Phillips R, Rozen P, Syngal S, Vijg J, Tomlinson IP, Aaltonen LA, Eng C. Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res 1997;57:5017-21.
17. Marsh DJ, Caron S, Dahia PLM, Kum JB, Frayling IM, Tomlinson IPM, Hughes KS, Hodgson SV, Murday VA, Houlston R, Eng C. Germline PTEN mutations in Cowden syndrome-like families. J Med Genet 1998;35:881-5.
18. National Cancer Institute SRaAB. DevCan: Probability of Developing or Dying of Cancer Software, Version 6.5.0. Bethesda, MD, USA: US National Cancer Institute, 2005.
19. Fay MP, Pfeiffer R, Cronin KA, Le C, Feuer EJ. Age-conditional probabilities of developing cancer. Stat Med 2003;22:1837-48.
20. Fay MP. Estimating age conditional probability of developing disease from surveillance data. Popul Health Metr 2004;2:6.
21. Vega A, Torres J, Torres M, Cameselle-Teijeiro J, Macia M, Carracedo A, Pulido R. A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. J Invest Dermatol 2003;121:1356-9.
22. Bonneau D, Longy M. Mutations of the human PTEN gene. Hum Mutat 2000;16:109-22.
23. Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C. Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers. Gastroenterology 2010;139:1927-33.
24. Kato H, Kato S, Kumabe T, Sonoda Y, Yoshimoto T, Kato S, Han SY, Suzuki T, Shibata H, Kanamaru R, Ishioka C. Functional evaluation of p53 and PTEN gene mutations in gliomas. Clin Cancer Res 2000;6:3937-43.
25. Han SY, Kato H, Kato S, Suzuki T, Shibata H, Ishii S, Shiiba K, Matsuno S, Kanamaru R, Ishioka C. Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. Cancer Res 2000;60:3147-51.
26. Sharma MR, Petty EM, Lesperance MM. Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. Arch Otolaryngol Head Neck Surg 2007;133:1157-60.
27. Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V. Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. Clin Genet 2009;75:195-8.
28. Zhou XP, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, Eng C. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet 2003;73:1191-8.
29. Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, Fishman SJ, Irons MB. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet 2007;44:594-602.
30. Lachlan KL, Lucassen AM, Bunyan D, Temple IK. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and agerelated penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet 2007;44:579-85.
31. Love SM, Gelman RS, Silen W. Sounding board. Fibrocystic "disease" of the breast-a nondisease? N Engl J Med 1982;307:1010-14.
32. Santen RJ, Mansel R. Benign breast disorders. N Engl J Med 2005;353:275-85.
33. Day Baird D, Dunson DB, Hill MC, Cousins D, Schectman JM. High cumulative incidence of uterine leiomyoma in black and white women: ultrasound evidence. Am J Obstet Gynecol 2003;188:100-7.
34. Salem OS, Steck WD. Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature. J Am Acad Dermatol 1983;8:686-96.
35. Starink TM, Hausman R. The cutaneous pathology of facial lesions in Cowden's disease. J Cutan Pathol 1984;11:331-7.
36. Fackenthal J, Marsh DJ, Richardson AL, Cummings SC, Eng C, Robinson BG, Olopade OI. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 2001;38:159-64.
37. Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, Boardman LA. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract 2010;8:6.
38. Shiovitz S, Everett J, Huang SC, Orloff MS, Eng C, Gruber SB. Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. Breast Cancer Res Treat 2010;124:459-65.