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Publications
2021
de Andrade KC, Khincha PP, Hatton JN, Frone MN, Wegman-Ostrosky T, Mai PL, Best AF, Savage SA. Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study. Lancet Oncol 2021 Dec;22(12):1787-1798. doi: 10.1016/S1470-2045(21)00580-5. Epub 2021 Nov 12.
Frone MN, Stewart DR, Savage SA, Khincha PP. Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome. JCO Precis Oncol 2021 Nov 10;5:PO.21.00320. doi: 10.1200/PO.21.00320.
Oba L, Best AF, Mai PL, Achatz MI, Albert PS, Savage SA, Khincha PP. Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome. Fam Cancer 2021 Jun 2. doi: 10.1007/s10689-021-00265-x. Epub ahead of print.
Siegel A, Bremer RC, Klein WMP, Savage SA, Loud JT, Khincha PP. Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome. Breast Cancer Res Treat 2021 Oct 15. doi: 10.1007/s10549-021-06410-5. Epub ahead of print.
Wilsnack C, Young JL, Merrill SL, Groner V, Loud JT, Bremer RC, Greene MH, Khincha PP, Werner-Lin A. Family Identity and Roles in the Context of Li-Fraumeni Syndrome: "No One's Like Us Mutants". Health Soc Work 2021 Nov 16;46(4):299-307. doi: 10.1093/hsw/hlab032.
2019
Khincha PP, Best AF, Fraumeni JF Jr, Loud JT, Savage SA, Achatz MI. Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome. Eur J Cancer 2019 Jul;116:199-206. doi: 10.1016/j.ejca.2019.05.005. Epub 2019 Jun 15.
de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, Santiago KM, Fortes FP, Lemonnier N, Mirabello L, Stewart DR, Hainaut P, Kowalski LP, Savage SA, Achatz MI. Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic. Hum Mutat 2019 Jun;40(6):832-833. doi: 10.1002/humu.23749. Epub 2019 Apr 18.
Young JL, Pantaleao A, Zaspel L, Bayer J, Peters JA, Khincha PP, Bremer RC, Loud JT, Greene MH, Achatz MI, Savage SA, Werner-Lin A. Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence. J Psychosoc Oncol 2019 Mar-Apr;37(2):178-193. doi: 10.1080/07347332.2018.1543376. Epub 2018 Dec 28.
2017
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]
2016
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 Dec 1;122(23):3673-3681. doi: 10.1002/cncr.30248. Epub 2016 Aug 6.
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 Dec;18(12):1218-1225. doi: 10.1038/gim.2016.36. Epub 2016 Apr 21.
2010-2015
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. doi: 10.1007/s10897-015-9905-x. Epub 2015 Nov 30.