Molecular basis of the Li-Fraumeni syndrome: An update from the French LFS families

Journal of Medical Genetics

Volumn 45, Issue 8, 2008, Pages 535-538

  Bougeard, G ^a   Sesboue R ^a   Baert Desurmont, S ^a   Vasseur, S ^a   Martin, C ^a   Tinat, J ^a   Brugieres L ^b   Chompret, A ^b   Bressac de Paillerets, B ^b   Stoppa Lyonnet, D ^c   Bonait Pellie C ^a   Frebourg T ^a   Berthet, P ^d   Bonadona, V ^d   Buecher, B ^d   Caron, O ^d   Colas, C ^d   Collonge Rame, M A ^d   Delnatte, C ^d   Dugast, C ^d   Fricker, J P ^d   Gauthier Villars, M ^d   Gesta, P ^d   Jonveaux, P ^d   Lasset, C ^d   Leheup, B ^d   Longy, M ^d   Nogues C ^d   more..

^a INSERM   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c INSTITUT CURIE   (France)

^d Inserm U535 ^*

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53;

ADRENAL CORTEX TUMOR; ADULT; ARTICLE; BRAIN TUMOR; BREAST CANCER; CARCINOGENESIS; COLORECTAL CANCER; CONTROLLED STUDY; EXON; FAMILIAL CANCER; FRANCE; GENE DELETION; GENE REARRANGEMENT; GERM CELL TUMOR; HUMAN; KIDNEY CANCER; LEUKEMIA; LUNG CANCER; LYMPHOMA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; ONSET AGE; OSTEOSARCOMA; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROMOTER REGION; SOFT TISSUE SARCOMA;

FEMALE; FRANCE; GENE DELETION; GENES, P53; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LI-FRAUMENI SYNDROME; MALE; MUTATION, MISSENSE; NEOPLASMS; PEDIGREE;

EID: 50049112746     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2008.057570     Document Type: Article

References (28)

1. Li FP, Fraumeni JF Jr. Rhabdomyosarcoma in children; epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 1969;43:1365-73.
2. Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancers and other neoplasms. A familial syndrome ? Ann Int Med 1969; 71:747-51.
3. Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW. A cancer family syndrome in twenty-four kindreds. Cancer Res 1988;48:5358-62.
4. Varley JM, Evans DG, Birch JM. Li-Fraumeni syndrome - a molecular and clinical review. Br J Cancer 1997;76:1-14.
5. Chompret A. The Li-Fraumeni syndrome. Biochimie 2002; 84:75-82.
6. Hisada M, Garber JE, Fung CY, Fraumeni JF Jr, Li FP. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst 1998;90:606-11.
7. Limacher JM, Frebourg T, Natarajan-Ame S, Bergerat JP. Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. Int J Cancer 2001;96:238-42.
8. Salmon A, Amikam D, Sodha N, Davidson S, Basel-Vanagaite L, Eeles RA, Abeliovich D, Peretz T. Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation. Clin Oncol 2007;19:490-3.
9. Malkin O, Li FR Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, Friend SH. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990;250:1233-8.
10. Srivastava S, Zou ZO, Pirollo K, Blattner W, Chang EH. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 1990;348:747-9.
11. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999;286:2528-31.
12. Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, Aaltonen LA, Blomqvist C, Aittomäki K, Nevanlinna H. p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res 2001; 61:5718-22.
13. Sodha N, Williams R, Mangion J, Bullock SL, Yuille MR, Eeles RA. Screening hCHK2 for mutations. Science 2000;289:359.
14. Bachinskit LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC, Krahe R. Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. Cancer Res 2005;65:427-31.
15. Varlay JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 2003;21:313-20.
16. Vousden KH, Lane DP. p53 in health and disease. Nat Rev Mol Cell Biol 2007;4:275-83.
17. Chompret A, Abel A, Stoppa-Lyannet D, Brugiéres L, Pagés S, Feunteun J, Bonaïti-Pellié C. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 2001; 38:43-7.
18. Bougeard G, Brugiéres L, Chompret A, Gesta P, Charbonnier F, Valent A, Martin C, Raux G, Feunteun J, Bressac-de Paillerets B, Frébourg T. Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene 2003;22:840-6.
19. Bougeard G, Baert-Desurmont S, Tournier I, Vasseur S, Martin C, Brugieres L, Chompret A, Bressac-de Paillerets B, Stoppa-Lyonnet D, Bonaiti-Pellie C, Frebourg T. Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. J Med Genet 2006;43:531-3.
20. Flaman J-M, Frebourg T, Moreau V, Charbonnier F, Martin C, Chappuis P, Sappino AP, Limacher, J-M, Bron L, Benhattar J, Tada M, Estreicher A, Iggo, RD. A simple p53 functional assay for screening cell lines, blood, and tumors. Proc Natl Acad Sci U S A 1995:92:3963-7.
21. Lang GA, Iwakuma T, Suh YA, Liu G, Rao VA, Parant JM, Valentin-Vega YA, Terzian T, Caldwell LC, Strong LC, EI-Naggar AK, Lozano G. Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. Cell 2004;119:861-72.
22. Olive KP, Tuveson DA, Ruhe ZC, Yin B, Willis NA, Bronson RT, Crowley D, Jacks T. Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. Cell 2004;119:847-60.
23. Birch JM, Blair V, Kelsey AM, Evans DG, Harris M, Tricker KJ, Varley JM. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 1998; 17:1061-8.
24. Strano S, Dell'Orso S, Di Agostino S, Fontemaggi G, Sacchi A, Blandino G. Mutant p53: an oncogenic transcription factor. Oncogene 2007;26:2212-9.
25. Weisz L, Oren M, Rotter V. Transcription regulation by mutant p53. Oncogene 2007;26:2202-11.
26. Song H, Hollstein M, Xu Y. p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM. Nat Cell Biol 2007;9:573-80.
27. Bond GL, Hu W, Bond EE, Robins H, Lutzker SG, Arva NC, Bargonetti J, Bartel F, Taubert H, Wuerl P, Onel K, Yip L, Hwang SJ, Strong LC, Lozano G, Levine AJ. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 2004;119:591-602.
28. Ruijs MW, Schmidt MK, Nevanlinna H, Tommiska J, Aittomäki K, Pruntel R, Verhoef S, Van't Veer LJ. The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes. Eur J Hum Genet 2007;15:110-4.