International Agency for Research on Cancer. IARC TP53 Database. Available at http://p53.iarc.fr/. Accessed: February 18, 2016.
Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988 Sep 15. 48(18):5358-62. [QxMD MEDLINE Link].
Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 1994 Mar 1. 54(5):1298-304. [QxMD MEDLINE Link].
Eeles RA. Germline mutations in the TP53 gene. Cancer Surv. 1995. 25:101-24. [QxMD MEDLINE Link].
Chompret A, Abel A, Stoppa-Lyonnet D, Brugiéres L, Pagés S, Feunteun J, et al. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet. 2001 Jan. 38(1):43-7. [QxMD MEDLINE Link]. [Full Text].
Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, et al. 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol. 2009 Sep 10. 27(26):e108-9; author reply e110. [QxMD MEDLINE Link].
Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, et al. Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet. 2008 Aug. 45(8):535-8. [QxMD MEDLINE Link].
Hwang SJ, Lozano G, Amos CI, Strong LC. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet. 2003 Apr. 72(4):975-83. [QxMD MEDLINE Link]. [Full Text].
Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009 Mar 10. 27(8):1250-6. [QxMD MEDLINE Link].
Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990 Nov 30. 250(4985):1233-8. [QxMD MEDLINE Link].
Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ. Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res. 1997 Aug 1. 57(15):3245-52. [QxMD MEDLINE Link].
Wu H, Pomeroy SL, Ferreira M, Teider N, Mariani J, Nakayama KI, et al. UBE4B promotes Hdm2-mediated degradation of the tumor suppressor p53. Nat Med. 2011 Mar. 17(3):347-55. [QxMD MEDLINE Link].
Marcel V, Palmero EI, Falagan-Lotsch P, Martel-Planche G, Ashton-Prolla P, Olivier M, et al. TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. J Med Genet. 2009 Nov. 46(11):766-72. [QxMD MEDLINE Link].
Renaux-Petel M, Sesboüé R, Baert-Desurmont S, Vasseur S, Fourneaux S, Bessenay E, et al. The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome. Fam Cancer. 2013 Jul 25. [QxMD MEDLINE Link].
Tabori U, Nanda S, Druker H, Lees J, Malkin D. Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. Cancer Res. 2007 Feb 15. 67(4):1415-8. [QxMD MEDLINE Link].
Trkova M, Prochazkova K, Krutilkova V, Sumerauer D, Sedlacek Z. Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age. Cancer. 2007 Aug 1. 110(3):694-702. [QxMD MEDLINE Link].
Shlien A, Tabori U, Marshall CR, et al. Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A. 2008 Aug 12. 105(32):11264-9. [QxMD MEDLINE Link].
Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC. Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am J Hum Genet. 1992 Aug. 51(2):344-56. [QxMD MEDLINE Link]. [Full Text].
Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, Gallinger S, et al. Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. JAMA Oncol. 2015 May. 1 (2):214-21. [QxMD MEDLINE Link].
Mai PL, Malkin D, Garber JE, Schiffman JD, Weitzel JN, Strong LC, et al. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Genet. 2012 Oct. 205(10):479-87. [QxMD MEDLINE Link]. [Full Text].
Le Bihan C, Moutou C, Brugieres L, Feunteun J, Bonaiti-Pellie C. ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genet Epidemiol. 1995. 12(1):13-25. [QxMD MEDLINE Link].
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 Aug 20. 96 (4):238-42. [QxMD MEDLINE Link].
Heymann S, Delaloge S, Rahal A, Caron O, Frebourg T, Barreau L, et al. Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol. 2010 Nov 8. 5:104. [QxMD MEDLINE Link].
Boyle JM, Spreadborough A, Greaves MJ, Birch JM, Varley JM, Scott D. The relationship between radiation-induced G(1)arrest and chromosome aberrations in Li-Fraumeni fibroblasts with or without germline TP53 mutations. Br J Cancer. 2001 Jul 20. 85 (2):293-6. [QxMD MEDLINE Link].
McCuaig JM, Armel SR, Novokmet A, Ginsburg OM, Demsky R, Narod SA, et al. Routine TP53 testing for breast cancer under age 30: ready for prime time?. Fam Cancer. 2012 Dec. 11(4):607-13. [QxMD MEDLINE Link].
Allain DC. Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology. J Mol Diagn. 2008 Sep. 10(5):383-95. [QxMD MEDLINE Link].
Bougeard G, Renaux-Petel M, Flaman JM, et al. Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. J Clin Oncol. 2015 Jul 20. 33 (21):2345-52. [QxMD MEDLINE Link].
Birch JM, Blair V, Kelsey AM, et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene. 1998 Sep 3. 17(9):1061-8. [QxMD MEDLINE Link].
Birch JM, Hartley AL, Marsden HB, et al. Excess risk of breast cancer in the mothers of children with soft tissue sarcomas. Br J Cancer. 1984 Mar. 49(3):325-31. [QxMD MEDLINE Link].
Curtin K, Smith KR, Fraser A, Pimentel R, Kohlmann W, Schiffman JD. Familial risk of childhood cancer and tumors in the li-fraumeni spectrum in the utah population database: Implications for genetic evaluation in pediatric practice. Int J Cancer. 2013 Nov 15. 133(10):2444-53. [QxMD MEDLINE Link].
[Guideline] National Comprehensive Cancer Network. NCCN Guidelines: Li-Fraumeni Syndrome. Available at http://www.nccn.org/professionals/physician_gls/f_guidelines.asp. Accessed: February 18, 2016.
Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol. 2011 Jun. 12(6):559-67. [QxMD MEDLINE Link].
Cohen RJ, Curtis RE, Inskip PD, Fraumeni JF Jr. The risk of developing second cancers among survivors of childhood soft tissue sarcoma. Cancer. 2005 Jun 1. 103(11):2391-6. [QxMD MEDLINE Link].
Hisada M, Garber JE, Fung CY, et al. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998 Apr 15. 90(8):606-11. [QxMD MEDLINE Link].
Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?. Ann Intern Med. 1969 Oct. 71(4):747-52. [QxMD MEDLINE Link].
Li FP, Garber JE, Friend SH, et al. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Natl Cancer Inst. 1992 Aug 5. 84(15):1156-60. [QxMD MEDLINE Link].
Peterson SK, Pentz RD, Blanco AM, et al. Evaluation of a decision aid for families considering p53 genetic counseling and testing. Genet Med. 2006 Apr. 8(4):226-33. [QxMD MEDLINE Link].
Teepen JC, van Leeuwen FE, Tissing WJ, et al. Long-Term Risk of Subsequent Malignant Neoplasms After Treatment of Childhood Cancer in the DCOG LATER Study Cohort: Role of Chemotherapy. J Clin Oncol. 2017 Jul 10. 35 (20):2288-2298. [QxMD MEDLINE Link].