Prevalence of Germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 1, 2013, Pages

  Raymond, Victoria M ^a   Else, Tobias ^a   Everett, Jessica N ^a   Long, Jessica M ^a   Gruber, Stephen B ^a,b   Hammer, Gary D ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BEVACIZUMAB; CARBOPLATIN; CISPLATIN; DOXORUBICIN; ETOPOSIDE; IRINOTECAN; MITOTANE; PROTEIN P53; PROTEIN TYROSINE KINASE INHIBITOR;

ADOLESCENT; ADRENAL CORTEX CARCINOMA; ADULT; AGED; ARTICLE; ASIAN; CANCER DIAGNOSIS; CANCER GENETICS; CANCER GROWTH; CANCER SUSCEPTIBILITY; CAUCASIAN; CHILD; CONTROLLED STUDY; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GLIOBLASTOMA; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLE CYCLE TREATMENT; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; UNITED STATES;

EID: 84872094332     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2198     Document Type: Article

References (26)

1. Fraumeni Jr JF, Miller RW 1967 Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders. J Pediatr 70:129-138
2. Li FP, Fraumeni Jr JF, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW 1988 A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358-5362
3. Nichols KE, Malkin D, Garber JE, Fraumeni Jr JF, Li FP 2001 Germline p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 10:83-87
4. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A, Crowther D 1994 Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54:1298-1304
5. Eeles RA 1995 Germline mutations in the TP53 gene. Cancer Surveys 25:101-124
6. Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaiti-Pellie C, Stoppa-Lyonnet D, Frebourg T 2009 2009 Version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27:e108-e109; author reply e110
7. Chompret A, Abel A, Stoppa-Lyonnet D, Brugiéres L, Pagés S, Feunteun J, Bonaïti-Pellié C 2001 Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43-47
8. Varley JM, McGown G, Thorncroft M, James LA, Margison GP, Forster G, Evans DG, Harris M, Kelsey AM, Birch JM 1999 Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors. Am J Hum Genet 65:995-1006
9. Varley JM 2003 Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21:313-320
10. Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, Lafferty AR, DeLacerda L, Rabin M, Cadwell C, Sampaio G, Cat I, Stratakis CA, Sandrini R 2001 An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA 98:9330-9335
11. Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN 2009 Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27:1250-1256
12. Herrmann LJ, Heinze B, Fassnacht M, Willenberg HS, Quinkler M, Reisch N, Zink M, Allolio B, Hahner S 2012 TP53 germline mutations in adult patients with adrenocortical carcinoma. J Clin Endocrinol Metab 97:E476-E485
13. Olivier M, Eeles R, Hollstein M, Khan MA, Harris CC, Hainaut P 2002 The IARC TP53 database: new online mutation analysis and recommendations to users. Hum Mutat 19:607-614
14. Kebebew E, Reiff E, Duh QY, Clark OH, McMillan A 2006 Extent of disease at presentation and outcome for adrenocortical carcinoma: have we made progress? World J Surg 30:872-878
15. Varley JM, Evans DG, Birch JM 1997 Li-Fraumeni syndrome - a molecular and clinical review. Br J Cancer 76:1-14
16. Chompret A, Brugières L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, Frébourg T, Lemerle J, Bonaïti-Pellié C, Feunteun J 2000 P53 Germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82:1932-1937
17. Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC 1992 Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am J Hum Genet 51:344-356
18. Latronico AC, Pinto EM, Domenice S, Fragoso MC, Martin RM, Zerbini MC, Lucon AM, Mendonca BB 2001 An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. J Clin Endocrinol Metab 86:4970-4973
19. Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van't Veer LJ 2010 TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 47:421-428
20. Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugières L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, Bonaïti-Pellié C, Frébourg T 2008 Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet 45:535-538
21. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Clendenning M, Sotamaa K, Prior T, Westman JA, Panescu J, Fix D, Lockman J, LaJeunesse J, Comeras I, de la Chapelle A 2008 Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26:5783-5788
22. Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer)amongendometrial cancer patients. Cancer Res 66:7810-7817
23. Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, Griffin M, Hamilton SA, Frye CA, Silberman MA, Wenstrup RJ, Sandbach JF 2012 Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer. Cancer 118:2787-2795
24. Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D 2011 Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol 12:559-567
25. Masciari S, Van den Abbeele AD, Diller LR, Rastarhuyeva I, Yap J, Schneider K, Digianni L, Li FP, Fraumeni Jr JF, Syngal S, Garber JE 2008 F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. JAMA 299:1315-1319
26. 2012 NCCN guidelines. Version 1.2012: Li Fraumeni syndrome. http://www.nccn.org/professionals/physician-gls/pdf/genetics-screening.pdf