Li-Fraumeni Syndrome Differential Diagnoses
- Author: Kavita Patel, MD; Chief Editor: Max J Coppes, MD, PhD, MBA more...
Differential Diagnoses
- Acute Lymphoblastic Leukemia
- Acute Myelocytic Leukemia
- Adrenal Carcinoma
- Astrocytoma
- Bioethics in Pediatric Practice
- Childhood Cancer, Epidemiology
- Childhood Cancer, Genetics
- Chromosomal Breakage Syndromes
- Gardner Syndrome and Other Intestinal Polyposis Syndromes
- Late Effects of Childhood Cancer and Treatment
- Nonrhabdomyosarcoma Soft Tissue Sarcomas
- Osteosarcoma
- Retinoblastoma
- Rhabdomyosarcoma
- WAGR Syndrome
- Wilms Tumor
Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. Nov 30 1990;250(4985):1233-8. [Medline].
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. Aug 1 1997;57(15):3245-52. [Medline].
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. Mar 2011;17(3):347-55. [Medline].
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. Feb 15 2007;67(4):1415-8. [Medline].
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. Aug 12 2008;105(32):11264-9. [Medline].
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. [Medline].
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. Sep 2008;10(5):383-95. [Medline].
Birch JM, Blair V, Kelsey AM, et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene. Sep 3 1998;17(9):1061-8. [Medline].
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. Mar 1984;49(3):325-31. [Medline].
Boyle JM, Mitchell EL, Greaves MJ, et al. Chromosome instability is a predominant trait of fibroblasts from Li-Fraumeni families. Br J Cancer. Jun 1998;77(12):2181-92. [Medline].
Cohen RJ, Curtis RE, Inskip PD, Fraumeni JF Jr. The risk of developing second cancers among survivors of childhood soft tissue sarcoma. Cancer. Jun 1 2005;103(11):2391-6. [Medline].
Culler D, Grimes SJ, Acheson LS, Wiesner GL. Cancer genetics in primary care. Prim Care. Sep 2004;31(3):649-83, xi. [Medline].
Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol. Jan 10 2005;23(2):276-92. [Medline].
Hartley AL, Birch JM, Marsden HB, Harris M. Breast cancer risk in mothers of children with osteosarcoma and chondrosarcoma. Br J Cancer. Nov 1986;54(5):819-23. [Medline].
Heyn R, Haeberlen V, Newton WA, et al. Second malignant neoplasms in children treated for rhabdomyosarcoma. Intergroup Rhabdomyosarcoma Study Committee. J Clin Oncol. Feb 1993;11(2):262-70. [Medline].
Hisada M, Garber JE, Fung CY, et al. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. Apr 15 1998;90(8):606-11. [Medline].
Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?. Ann Intern Med. Oct 1969;71(4):747-52. [Medline].
Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res. Sep 15 1988;48(18):5358-62. [Medline].
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. Aug 5 1992;84(15):1156-60. [Medline].
Olivier M, Goldgar DE, Sodha N, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. Oct 15 2003;63(20):6643-50. [Medline].
Peterson SK, Pentz RD, Blanco AM, et al. Evaluation of a decision aid for families considering p53 genetic counseling and testing. Genet Med. Apr 2006;8(4):226-33. [Medline].
Soussi T, Beroud C. Assessing TP53 status in human tumours to evaluate clinical outcome. Nat Rev Cancer. Dec 2001;1(3):233-40. [Medline].
Tsutsui T, Tanaka Y, Matsudo Y, et al. Extended lifespan and immortalization of human fibroblasts induced by X- ray irradiation. Mol Carcinog. Jan 1997;18(1):7-18. [Medline].

