Second malignant neoplasms in patients with cowden syndrome with underlying germline PTEN mutations

Journal of Clinical Oncology

Volumn 32, Issue 17, 2014, Pages 1818-1824

  Ngeow, Joanne ^a   Stanuch, Kim ^a   Mester, Jessica L ^a   Barnholtz Sloan, Jill S ^b   Eng, Charis ^a,b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADOLESCENT; ADULT; AGED; ARTICLE; BREAST CANCER; CANCER EPIDEMIOLOGY; CANCER RISK; CHILD; COLON CANCER; CONTROLLED STUDY; COWDEN SYNDROME; ENDOMETRIUM CANCER; FEMALE; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; KIDNEY CANCER; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; MELANOMA; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIMARY TUMOR; PRIORITY JOURNAL; PROSPECTIVE STUDY; SECOND CANCER; STANDARDIZED INCIDENCE RATIO; THYROID CANCER; TUMOR INVASION;

ADOLESCENT; ADULT; AGED; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; MIDDLE AGED; NEOPLASMS; NEOPLASMS, SECOND PRIMARY; PROSPECTIVE STUDIES; PTEN PHOSPHOHYDROLASE; RISK FACTORS; YOUNG ADULT;

EID: 84905836915     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2013.53.6656     Document Type: Article

References (33)

1. National Cancer Institute: SEER Cancer Statistics Review, 1975-2007. http://seer.cancer.gov/archive/csr/1975-2007
2. Metcalfe KA, Lynch HT, Ghadirian P, et al: The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecol Oncol 96:222-226, 2005 (Pubitemid 39612440)
3. Rhiem K, Engel C, Graeser M, et al: The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: A retrospective cohort study. Breast Cancer Res 14:R156, 2012
4. Ngeow J, Mester J, Rybicki LA, et al: Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. J Clin Endocrinol Metab 96:E2063-E2071, 2011
5. Tan MH, Mester JL, Ngeow J, et al: Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18:400-407, 2012
6. Eng C: Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 37:828-830, 2000
7. 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 41:323-326, 2004 (Pubitemid 38608513)
8. Daly MB, Axilbund JE, Buys S, et al: Genetic/familial high-risk assessment: Breast and ovarian. J Natl Compr Canc Netw 8:562-594, 2010
9. Mester JL, Zhou M, Prescott N, et al: Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. Urology 79:1187.e1-1187.e7, 2012
10. Tan MH, Mester J, Peterson C, et al: A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 88:42-56, 2011
11. Eng C, Thiele H, Zhou XP, et al: PTEN mutations and Proteus syndrome. Lancet 358:2079-2080, 2001
12. van der Stoep N, van Paridon CD, Janssens T, et al: Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 30:899-909, 2009
13. Schouten JP, McElgunn CJ, Waaijer R, et al: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57, 2002
14. Teresi RE, Zbuk KM, Pezzolesi MG, et al: Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. Am J Hum Genet 81:756-767, 2007 (Pubitemid 47596543)
15. Moorman NJ, Shenk T: Rapamycin-resistant mTORC1 kinase activity is required for herpesvirus replication. J Virol 84:5260-5269, 2010
16. Lang SA, Hackl C, Moser C, et al: Implication of RICTOR in the mTOR inhibitor-mediated induction of insulin-like growth factor-I receptor (IGF-IR) and human epidermal growth factor receptor-2 (Her2) expression in gastrointestinal cancer cells. Biochim Biochim Biophys Acta 1803:435-442, 2010
17. Moss SC, Lightell DJ Jr, Marx SO, et al: Rapamycin regulates endothelial cell migration through regulation of the cyclin-dependent kinase inhibitor p27Kip1. J Biol Chem 285:11991-11997, 2010
18. Wang Y, Romigh T, He X, et al: Differential regulation of PTEN expression by androgen receptor in prostate and breast cancers. Oncogene 30:4327-4338, 2011
19. Percy C, Fritz A, Jack A, et al: International Classification of Disease for Oncology: ICD-O (ed 3). Geneva, Switzerland, World Health Organization, 2000
20. Breslow NE, Day NE: Statistical methods in cancer research: Volume II - The design and analysis of cohort studies. IARC Sci Publ 82:1-406, 1987
21. Hobert JA, Eng C: PTEN hamartoma tumor syndrome: An overview. Genet Med 11:687-694, 2009
22. Bubien V, Bonnet F, Brouste V, et al: High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 50:255-263, 2013
23. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, et al: Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Fam Cancer [epub ahead of print on August 11, 2013]
24. Hayat MJ, Howlader N, Reichman ME, et al: Cancer statistics, trends, and multiple primary cancer analyses from the Surveillance, Epidemiology, and End Results (SEER) Program. Oncologist 12:20-37, 2007 (Pubitemid 46143500)
25. Van Fossen VL, Wilhelm SM, Eaton JL, et al: Association of thyroid, breast and renal cell cancer: A population-based study of the prevalence of second malignancies. Ann Surg Oncol 20:1341-1347, 2013
26. Lal G, Groff M, Howe JR, et al: Risk of subsequent primary thyroid cancer after another malignancy: Latency trends in a population-based study. Ann Surg Oncol 19:1887-1896, 2012
27. Nielsen SF, Nordestgaard BG, Bojesen SE: Associations between first and second primary cancers: A population-based study. CMAJ 184:E57-E69, 2012
28. Ng AK, Kenney LB, Gilbert ES, et al: Secondary malignancies across the age spectrum. Semin Radiat Oncol 20:67-78, 2010
29. Travis LB, Demark Wahnefried W, Allan JM, et al: Aetiology, genetics and prevention of secondary neoplasms in adult cancer survivors. Nat Rev Clin Oncol 10:289-301, 2013
30. Nagy R, Ganapathi S, Comeras I, et al: Frequency of germline PTEN mutations in differentiated thyroid cancer. Thyroid 21:505-510, 2011
31. Peto J: Breast cancer susceptibility: A new look at an old model. Cancer Cell 1:411-412, 2002
32. Pharoah PD, Antoniou A, Bobrow M, et al: Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 31:33-36, 2002
33. Ni Y, He X, Chen J, et al: Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. Hum Mol Genet 21:300-310, 2012