Li-Fraumeni Syndrome

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Xu, C. Li-Fraumeni Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4572 (accessed on 28 September 2026).

Xu C. Li-Fraumeni Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4572. Accessed September 28, 2026.

Xu, Camila. "Li-Fraumeni Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4572 (accessed September 28, 2026).

Xu, C. (2020, December 24). Li-Fraumeni Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4572

Xu, Camila. "Li-Fraumeni Syndrome." Encyclopedia. Web. 24 December, 2020.

Li-Fraumeni Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome

Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

genetic conditions

References

Batalini F, Peacock EG, Stobie L, Robertson A, Garber J, Weitzel JN, Tung NM. Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences betweengermline PVs, mosaicism, and clonal hematopoiesis. Breast Cancer Res. 2019 Sep18;21(1):107. doi: 10.1186/s13058-019-1193-1. Review.
Chompret A. The Li-Fraumeni syndrome. Biochimie. 2002 Jan;84(1):75-82.
Gargallo P, Yáñez Y, Segura V, Juan A, Torres B, Balaguer J, Oltra S, CastelV, Cañete A. Li-Fraumeni syndrome heterogeneity. Clin Transl Oncol. 2020Jul;22(7):978-988. doi: 10.1007/s12094-019-02236-2.
Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, HansfordJR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, PfisterSM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD,Villani A, Malkin D. Cancer Screening Recommendations for Individuals withLi-Fraumeni Syndrome. Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi:10.1158/1078-0432.CCR-17-0408. Review.
Melean G, Sestini R, Ammannati F, Papi L. Genetic insights into familialtumors of the nervous system. Am J Med Genet C Semin Med Genet. 2004 Aug15;129C(1):74-84. Review.
Moule RN, Jhavar SG, Eeles RA. Genotype phenotype correlation in Li-Fraumenisyndrome kindreds and its implications for management. Fam Cancer.2006;5(2):129-33. Review.
Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA.Li-Fraumeni and related syndromes: correlation between tumor type, familystructure, and TP53 genotype. Cancer Res. 2003 Oct 15;63(20):6643-50.
Strong LC. General keynote: hereditary cancer: lessons from Li-Fraumenisyndrome. Gynecol Oncol. 2003 Jan;88(1 Pt 2):S4-7; discussion S11-3. Review.
Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat. 2003Mar;21(3):313-20. Review. Erratum in: Hum Mutat. 2003 May;21(5):551.
Wong P, Verselis SJ, Garber JE, Schneider K, DiGianni L, Stockwell DH, Li FP, Syngal S. Prevalence of early onset colorectal cancer in 397 patients withclassic Li-Fraumeni syndrome. Gastroenterology. 2006 Jan;130(1):73-9.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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