Revisiting Li-Fraumeni syndrome from TP53 mutation carriers

Journal of Clinical Oncology

Volumn 33, Issue 21, 2015, Pages 2345-2352

  Bougeard, Gaëlle ^a   Renaux Petel, Mariette ^a   Flaman, Jean Michel ^a   Charbonnier, Camille ^a   Fermey, Pierre ^a   Belotti, Muriel ^c   Gauthier Villars, Marion ^c   Stoppa Lyonnet, Dominique ^c   Consolino, Emilie ^d   Brugières, Laurence ^d   Caron, Olivier ^d   Benusiglio, Patrick R ^d   Bressac de Paillerets, Brigitte ^d   Bonadona, Valérie ^e   Bonaïti Pellié, Catherine ^f   Tinat, Julie ^a,b   Baert Desurmont, Stéphanie ^a,b   Frebourg, Thierry ^a,b  

^a UNIVERSITY OF ROUEN   (France)

^b ROUEN UNIVERSITY HOSPITAL   (France)

^c INSTITUT CURIE   (France)

^d INSTITUT GUSTAVE ROUSSY   (France)

^e CNRS   (France)

^f INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR; PROTEIN P53;

ADOLESCENT; ADRENAL CORTEX CARCINOMA; ADULT; AGED; ARTICLE; BREAST CARCINOMA; CANCER LOCALIZATION; CANCER SUSCEPTIBILITY; CENTRAL NERVOUS SYSTEM TUMOR; CHILD; CHOROID PLEXUS TUMOR; CODON; EXON; FAMILIAL CANCER; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; GENOMICS; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; GLIOBLASTOMA; HUMAN; INFANT; INTRON; LEIOMYOSARCOMA; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MEDULLOBLASTOMA; MISSENSE MUTATION; MULTIPLE CANCER; ONSET AGE; OSTEOSARCOMA; PENETRANCE; PRIORITY JOURNAL; RHABDOMYOSARCOMA; SOFT TISSUE SARCOMA; DNA SEQUENCE; FRANCE; GENETIC SCREENING; GENETICS; GENOTYPE; LI-FRAUMENI SYNDROME; PHENOTYPE;

ADOLESCENT; ADULT; AGE OF ONSET; FEMALE; FRANCE; GENETIC TESTING; GENOTYPE; GERM-LINE MUTATION; HUMANS; LI-FRAUMENI SYNDROME; MALE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84938215333     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2014.59.5728     Document Type: Article

References (42)

1. Reinhardt HC, Schumacher B: The p53 network: Cellular and systemic DNA damage responses in aging and cancer. Trends Genet 28:128-136, 2012
2. Li FP, Fraumeni JF Jr: Soft tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 71:747-752, 1969
3. Li FP, Fraumeni JF Jr, Mulvihill JJ, et al: A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358-5362, 1988
4. Malkin D, Li FP, Strong LC, et al: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233-1238, 1990
5. Srivastava S, Zou ZQ, Pirollo K, et al: Germline transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348:747-749, 1990
6. Malkin D: Li-fraumeni syndrome. Genes Cancer 2:475-484, 2011
7. Mai PL, Malkin D, Garber JE, et al: Li-Fraumeni syndrome: Report of a clinical research workshop and creation of a research consortium. Cancer Genet 205:479-487, 2012
8. McBride KA, Ballinger ML, Killick E, et al: Li-Fraumeni syndrome: Cancer risk assessment and clinical management. Nat Rev Clin Oncol 11:260-271, 2014
9. Kamihara J, Rana HQ, Garber JE: Germline TP53 Mutations and the Changing Landscape of Li-Fraumeni Syndrome. Hum Mutat 35:654-662, 2014
10. Chompret A, Abel A, Stoppa-Lyonnet D, et al: Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43-47, 2001
11. Bougeard G, Sesboüé R, Baert-Desurmont S, et al: Molecular basis of the Li-Fraumeni syndrome: An update from the French LFS families. J Med Genet 45:535-538, 2008
12. Tinat J, Bougeard G, Baert-Desurmont S, et al: Version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27:e108-e109; author reply e110, 2009
13. Gonzalez KD, Noltner KA, Buzin CH, et al: Beyond Li Fraumeni syndrome: Clinical characteristics of families with p53 germline mutations. J Clin Oncol 27:1250-1256, 2009
14. Ruijs MW, Verhoef S, Rookus MA, et al: 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, 2010
15. Bougeard G, Brugières L, Chompret A, et al: Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene 22: 840-846, 2003
16. Guimaraes DP, Hainaut P: TP53: A key gene in human cancer. Biochimie 84:83-93, 2002
17. Petitjean A, Mathe E, Kato S, et al: Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database. Hum Mutat 28:622-629, 2007
18. Wilson JR, Bateman AC, Hanson H, et al: A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. J Med Genet 47:771-774, 2010
19. Lalloo F, Varley J, Moran A, et al: BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives Eur J Cancer 42:1143-1150, 2006
20. Mouchawar J, Korch C, Byers T, et al: Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res 70:4795-4800, 2010
21. McCuaig JM, Armel SR, Novokmet A, et al: Routine TP53 testing for breast cancer under age 30: Ready for prime time? Fam Cancer 11:607-613, 2012
22. Hettmer S, Archer NM, Somers GR, et al: Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. Cancer 120:1068-1075, 2014
23. Hisada M, Garber JE, Fung CY, et al: Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 90:606-611, 1998
24. Nutting C, Camplejohn RS, Gilchrist R, et al: A patient with 17 primary tumours and a germ line mutation in TP53: Tumour induction by adjuvant therapy? Clin Oncol (R Coll Radiol) 12:300-304, 2000
25. Izawa N, Matsumoto S, Manabe J, et al: A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene. Int J Clin Oncol 13:78-82, 2008
26. Heymann S, Delaloge S, Rahal A, et al: Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol 5:104, 2010
27. Limacher JM, Frebourg T, Natarajan-Ame S, et al: Two metachronous tumors in the radio-therapy fields of a patient with Li-Fraumeni syndrome. Int J Cancer 96:238-242, 2001
28. Zerdoumi Y, Aury-Landas J, Bonaïti-Pellié C, et al: Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients. Hum Mutat 34: 453-461, 2013
29. Olive KP, Tuveson DA, Ruhe ZC, et al: Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. Cell 119:847-860, 2004
30. Lang GA, Iwakuma T, Suh YA, et al: Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. Cell 119:861-872, 2004
31. Song H, Hollstein M, Xu Y: p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM. Nat Cell Biol 9:573-580, 2007
32. Liu DP, Song H, Xu Y: A common gain of function of p53 cancer mutants in inducing genetic instability. Oncogene 29:949-956, 2010
33. Hanel W, Marchenko N, Xu S, et al: Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. Cell Death Differ 20:898-909, 2013
34. Muller PA, Vousden KH: Mutant p53 in cancer: New functions and therapeutic opportunities. Cancer Cell 25:304-317, 2014
35. Palmero EI, Achatz MI, Ashton-Prolla P, et al: Tumor protein 53 mutations and inherited cancer: Beyond Li-Fraumeni syndrome. Curr Opin Oncol 22:64-69, 2010
36. Custódio G, Parise GA, Kiesel Filho N, et al: Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. J Clin Oncol 31: 2619-2626, 2013
37. Achatz MI, Olivier M, Le Calvez F, et al: The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett 245:96-102, 2007
38. Achatz MI, Hainaut P, Ashton-Prolla P: Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: A case for newborn screening? Lancet Oncol 10:920-925, 2009
39. Varley JM, McGown G, Thorncroft M, et al: Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors. Am J Hum Genet 65:995-1006, 1999
40. Spencer SJ, Mesiano S, Lee JY, et al: Proliferation and apoptosis in the human adrenal cortex during the fetal and perinatal periods: Implications for growth and remodeling. J Clin Endocrinol Metab 84:1110-1115, 1999
41. Coulter CL: Fetal adrenal development: Insight gained from adrenal tumors. Trends Endocrinol Metab 16:235-242, 2005
42. Villani A, Tabori U, Schiffman J, et al: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: A prospective observational study. Lancet Oncol 12:559-567, 2011