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Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.
Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE. Achatz MI, et al. Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790. Clin Cancer Res. 2017. PMID: 28674119 Review.
PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Schultz KAP, Rednam SP, Kamihara J, Doros L, Achatz MI, Wasserman JD, Diller LR, Brugières L, Druker H, Schneider KA, McGee RB, Foulkes WD. Schultz KAP, et al. Among authors: achatz mi. Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629. Clin Cancer Res. 2017. PMID: 28620008 Review.
Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
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. de Andrade KC, et al. Among authors: achatz mi. Hum Mutat. 2019 Jun;40(6):832-833. doi: 10.1002/humu.23749. Epub 2019 Apr 18. Hum Mutat. 2019. PMID: 30997946 No abstract available.
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell KN, Schiffman JD, Sandoval R; Li-Fraumeni Exploration (LIFE) Consortium; James PA, Spurdle AB. Fortuno C, et al. Among authors: achatz mi. Hum Mutat. 2020 Sep;41(9):1555-1562. doi: 10.1002/humu.24060. Epub 2020 Jun 12. Hum Mutat. 2020. PMID: 32485079 Free PMC article.
Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome.
Sandoval RL, Masotti C, de Macedo MP, Ribeiro MFSA, Leite ACR, Meireles SI, Bovolin RM, Santini FC, Munhoz RR, Jardim DLF, Katz A, Camargo AA, Fernandes GDS, Achatz MI. Sandoval RL, et al. Among authors: achatz mi. JCO Glob Oncol. 2021 Jul;7:1141-1150. doi: 10.1200/GO.21.00097. JCO Glob Oncol. 2021. PMID: 34270331 Free PMC article.
112 results