Tian P, Zhang X, Yang S, Fang Y, Yuan H, Li W, Zhu H, Zhao F, Ding J, Zhu Y, Wang S, Sun G, Ni H, Ma T, Lei T
J Genet Genomics 2022 Jul;49(7):645-653. Epub 2022 Jan 14 doi: 10.1016/j.jgg.2021.12.012. PMID: 35033608

Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation.

Ferreira AM, Brondani VB, Helena VP, Charchar HLS, Zerbini MCN, Leite LAS, Hoff AO, Latronico AC, Mendonca BB, Diz MDPE, de Almeida MQ, Fragoso MCBV
J Steroid Biochem Mol Biol 2019 Jun;190:250-255. Epub 2019 Apr 8 doi: 10.1016/j.jsbmb.2019.04.011. PMID: 30974190

TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.

Andrade RC, Dos Santos AC, de Aguirre Neto JC, Nevado J, Lapunzina P, Vargas FR
Fam Cancer 2017 Apr;16(2):243-248. doi: 10.1007/s10689-016-9935-z. PMID: 27714481

Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician.

Giacomazzi CR, Giacomazzi J, Netto CB, Santos-Silva P, Selistre SG, Maia AL, Oliveira VZ, Camey SA, Goldim JR, Ashton-Prolla P
Rev Assoc Med Bras (1992) 2015 May-Jun;61(3):282-9. doi: 10.1590/1806-9282.61.03.282. PMID: 26248253

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

Giacomazzi J, Selistre SG, Rossi C, Alemar B, Santos-Silva P, Pereira FS, Netto CB, Cossio SL, Roth DE, Brunetto AL, Zagonel-Oliveira M, Martel-Planche G, Goldim JR, Hainaut P, Camey SA, Ashton-Prolla P
Cancer 2013 Dec 15;119(24):4341-9. Epub 2013 Oct 7 doi: 10.1002/cncr.28346. PMID: 24122735

See all (24)

Diagnosis

Characteristics of TP53 germline variants and their correlations with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome in Chinese tumor patients.

Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation.

Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician.

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma.

Sakurai N, Iwamoto S, Miura Y, Nakamura T, Matsumine A, Nishioka J, Nakatani K, Komada Y
Pediatr Int 2013 Feb;55(1):107-11. doi: 10.1111/j.1442-200X.2012.03641.x. PMID: 23409989

See all (30)

Therapy

Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, Bremer RC, Rosenberg PS, Savage SA
Cancer 2016 Dec 1;122(23):3673-3681. Epub 2016 Aug 6 doi: 10.1002/cncr.30248. PMID: 27496084 Free PMC Article

See all (1)

Prognosis

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E
Fam Cancer 2018 Jan;17(1):141-153. doi: 10.1007/s10689-017-0011-0. PMID: 28608266

R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature.

Borges LM, Ayres FM
Genet Mol Res 2015 Dec 16;14(4):17034-43. doi: 10.4238/2015.December.16.4. PMID: 26681051

Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures.

Sagne C, Marcel V, Bota M, Martel-Planche G, Nobrega A, Palmero EI, Perriaud L, Boniol M, Vagner S, Cox DG, Chan CS, Mergny JL, Olivier M, Ashton-Prolla P, Hall J, Hainaut P, Achatz MI
Carcinogenesis 2014 Apr;35(4):807-15. Epub 2013 Dec 11 doi: 10.1093/carcin/bgt381. PMID: 24336192 Free PMC Article

A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer.

Cho Y, Kim J, Kim Y, Jeong J, Lee KA
Ann Lab Med 2013 May;33(3):212-6. Epub 2013 Apr 17 doi: 10.3343/alm.2013.33.3.212. PMID: 23667851 Free PMC Article

Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil.

Custodio G, Taques GR, Figueiredo BC, Gugelmin ES, Oliveira Figueiredo MM, Watanabe F, Pontarolo R, Lalli E, Torres LF
PLoS One 2011 Mar 22;6(3):e18015. doi: 10.1371/journal.pone.0018015. PMID: 21445348 Free PMC Article

See all (8)

Clinical prediction guides

Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation.

R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature.

Borges LM, Ayres FM
Genet Mol Res 2015 Dec 16;14(4):17034-43. doi: 10.4238/2015.December.16.4. PMID: 26681051

The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast cancer.

Giacomazzi J, Correia RL, Palmero EI, Gaspar JF, Almeida M, Portela C, Camey SA, Monteiro A, Pinheiro M, Peixoto A, Teixeira MR, Reis RM, Ashton-Prolla P
Breast J 2014 Sep-Oct;20(5):534-6. Epub 2014 Jul 23 doi: 10.1111/tbj.12308. PMID: 25052705

Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements.

Kouidou S, Malousi A, Maglaveras N
Mol Carcinog 2009 Oct;48(10):895-902. doi: 10.1002/mc.20537. PMID: 19367569

Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.

Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA
Cancer Res 2003 Oct 15;63(20):6643-50. PMID: 14583457

See all (17)