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Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.
Borcoman E, Santana Dos Santos E, Genestie C, Pautier P, Lacroix L, Caputo SM, Cabaret O, Guillaud-Bataille M, Michels J, Auguste A, Leary A, Rouleau E. Borcoman E, et al. Among authors: santana dos santos e. Int J Mol Sci. 2023 Jul 18;24(14):11570. doi: 10.3390/ijms241411570. Int J Mol Sci. 2023. PMID: 37511329 Free PMC article.
Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition.
Simões MFE, da Costa AABA, Silva TN, Fernandes L, Bovolim G, Torrezan GT, Carraro DM, Baiocchi G, Menezes ANO, Santana Dos Santos E, De Brot L. Simões MFE, et al. Among authors: santana dos santos e. Curr Oncol. 2022 Jan 18;29(2):411-422. doi: 10.3390/curroncol29020037. Curr Oncol. 2022. PMID: 35200537 Free PMC article. Review.
Value of the loss of heterozygosity to BRCA1 variant classification.
Santana Dos Santos E, Spurdle AB, Carraro DM, Briaux A, Southey M, Torrezan G, Petitalot A, Leman R, Lafitte P; kConFab Investigators; Meseure D, Driouch K, Side L, Brewer C, Beck S, Melville A, Callaway A, Revillion F, Folgueira MAAK, Parsons MT, Thorne H, Vincent-Salomon A, Stoppa-Lyonnet D, Bieche I, Caputo SM, Rouleau E. Santana Dos Santos E, et al. NPJ Breast Cancer. 2022 Jan 17;8(1):9. doi: 10.1038/s41523-021-00361-2. NPJ Breast Cancer. 2022. PMID: 35039532 Free PMC article.
Genetic Landscape of Male Breast Cancer.
Campos FAB, Rouleau E, Torrezan GT, Carraro DM, Casali da Rocha JC, Mantovani HK, da Silva LR, Osório CABT, Moraes Sanches S, Caputo SM, Santana Dos Santos E. Campos FAB, et al. Among authors: santana dos santos e. Cancers (Basel). 2021 Jul 15;13(14):3535. doi: 10.3390/cancers13143535. Cancers (Basel). 2021. PMID: 34298749 Free PMC article. Review.
HRness in Breast and Ovarian Cancers.
Santana Dos Santos E, Lallemand F, Petitalot A, Caputo SM, Rouleau E. Santana Dos Santos E, et al. Int J Mol Sci. 2020 May 28;21(11):3850. doi: 10.3390/ijms21113850. Int J Mol Sci. 2020. PMID: 32481735 Free PMC article. Review.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Burke LJ, Sevcik J, Gambino G, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons MT, De Leeneer K, Gutiérrez-Enríquez S, Santamariña M, Caputo SM, Santana Dos Santos E, Soukupova J, Janatova M, Zemankova P, Lhotova K, Stolarova L, Borecka M, Moles-Fernández A, Manoukian S, Bonanni B; ENIGMA Consortium; Edwards SL, Blok MJ, van Overeem Hansen T, Rossing M, Diez O, Vega A, Claes KBM, Goldgar DE, Rouleau E, Radice P, Peterlongo P, Rogan PK, Caligo M, Spurdle AB, Brown MA. Burke LJ, et al. Among authors: santana dos santos e. Hum Mutat. 2018 Dec;39(12):2025-2039. doi: 10.1002/humu.23652. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30204945 Free PMC article.