Ballinger ML, Best A, Mai PL, Khincha PP, Loud JT, Peters JA, Achatz MI, Chojniak R, Balieiro da Costa A, Santiago KM, Garber J, O'Neill AF, Eeles RA, Evans DG, Bleiker E, Sonke GS, Ruijs M, Loo C, Schiffman J, Naumer A, Kohlmann W, Strong LC, Bojadzieva J, Malkin D, Rednam SP, Stoffel EM, Koeppe E, Weitzel JN, Slavin TP, Nehoray B, Robson M, Walsh M, Manelli L, Villani A, Thomas DM, Savage SA. Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis. JAMA Oncol 2017 Aug 3. [Epub ahead of print]

Formiga MNDC, de Andrade KC, Kowalski LP, Achatz MI. Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. JAMA Oncol 2017 Oct 1;3(10):1400-1402. doi: 10.1001/jamaoncol.2016.6389.

Mai PL, Khincha PP, Loud JT, DeCastro RM, Bremer RC, Peters JA, Liu CY, Bluemke DA, Malayeri AA, Savage SA. Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. JAMA Oncol 2017 Aug 3. [Epub ahead of print]


Achatz MI, Zambetti GP. The Inherited p53 Mutation in the Brazilian Population. Cold Spring Harb Perspect Med. 2016 Dec 1;6(12). pii: a026195.

Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, Bremer RC, Rosenberg PS, Savage SA. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer 2016 Aug 6. [Epub ahead of print] PMID:27496084.

Andrade KC, Santiago KM, Fortes FP, Mambelli LI, Nóbrega AF, Achatz MI. Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. Genet Mol Biol. 2016 May 24;39(2):199-202.

Loud JT, Bremer RC, Mai PL, Peters JA, Giri N, Stewart DR, Greene MH, Alter BP, Savage SA. Research participant interest in primary, secondary, and incidental genomic findings. Genet Med 2016 Apr 21. [Epub ahead of print]


Mai PL, Malkin D, Garber JE, Schiffman DJ… Fraumeni JF Jr, Savage SA. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.  Cancer Genetics 2012.

Peters JA, Kenen R, Bremer R, Givens S, Savage SA, Mai PL. Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome. J Genet Couns 2016 Jun;25(3):529-42. PMID:26621765.

Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D. 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. PMID:21601526.


Chapter 22: Li-Fraumeni Syndrome, including Li-Fraumeni-Like Syndrome (Concise Handbook of Familial Cancer Syndromes, Second Edition Journal of the National Cancer Institute Monographs, No. 38, 2008, pp 48-50)

Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH,Lowstuter K, Longmate J, Sommer SS, Weitzel JN. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 2009;27:1250-6.

Nichols KE, Malkin D, Garber JE, Fraumeni JF Jr, Li FP. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 2001;10:83-7.

Olivier M, Eeles R, Hollstein M, Khan MA, Harris CC, Hainaut P. The IARC TP53 database: new online mutation analysis and recommendations to users. Hum Mutat 2002 Jun;19(6):607-14.

Tabori U, Malkin D. Risk stratification in cancer predisposition syndromes: Lessons learned from novel molecular developments in Li-Fraumeni Syndrome. Cancer Res 2008;68:2053-7.


Li FP, Fraumeni JF Jr. Collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome. Cancer Epidemiol Biomarkers Prev 1994 Dec;3(8):715-7. PMID:7881346.

Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, 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. Erratum in: Science. 1993 Feb 12;259(5097):878. PMID:1978757.

Prior to 1990

Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW. A cancer family syndrome in twenty-four kindredsCancer Res 1988;48:5358-62.

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. PMID:5360287.