Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome von Palmero, Edenir I, Achatz, Maria IW, Ashton-Prolla, Patricia, Olivier, Magali, Hainaut, Pierre

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Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? von Silva, Amanda G, Krepischi, Ana C V, Torrezan, Giovana T, Capelli, Leonardo P, Carraro, Dirce M, D'Angelo, Carla S, Koiffmann, Celia P, Zatz, Mayana, Naslavsky, Michel S, Masotti, Cibele, Otto, Paulo A, Achatz, Maria I W, Mills, Ryan E, Lee, Charles, Pearson, Peter L, Rosenberg, Carla

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Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li–Fraumeni syndrome von Amadou, Amina, Waddington Achatz, Maria I, Hainaut, Pierre

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LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis von De Araújo, Érica S S, Kashiwabara, André Y, Achatz, Maria I W, Moredo, Luciana F, De Sá, Bianca C S, Duprat, João P, Rosenberg, Carla, Carraro, Dirce M, Krepischi, Ana C V

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TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism involving a common mutant founder haplotype: case report von da Silva, Edaise M, Achatz, Maria Isabel W, Martel-Planche, Ghyslaine, Montagnini, André L, Olivier, Magali, Prolla, Patricia A, Hainaut, Pierre, Soares, Fernando A

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Neoadjuvant Chemotherapy Followed by Interval Debulking Surgery and the Risk of Platinum Resistance in Epithelial Ovarian Cancer von da Costa, Alexandre A. B. A., Valadares, Camila V., Baiocchi, Glauco, Mantoan, Henrique, Saito, Augusto, Sanches, Solange, Guimarães, Andréia P., Achatz, Maria Isabel W.

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Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil von Giacomazzi, Juliana, Graudenz, Marcia S, Osorio, Cynthia A B T, Koehler-Santos, Patricia, Palmero, Edenir I, Zagonel-Oliveira, Marcelo, Michelli, Rodrigo A D, Scapulatempo Neto, Cristovam, Fernandes, Gabriela C, Achatz, Maria Isabel W S, Martel-Planche, Ghyslaine, Soares, Fernando A, Caleffi, Maira, Goldim, José Roberto, Hainaut, Pierre, Camey, Suzi A, Ashton-Prolla, Patricia

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Monoallelic deleterious MUTYH germline variants as a driver for tumorigenesis von Barreiro, Rodrigo Araujo Sequeira, Sabbaga, Jorge, Rossi, Benedito M, Achatz, Maria Isabel W, Bettoni, Fabiana, Camargo, Anamaria A, Asprino, Paula F, Galante, Pedro

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Number of rare germline CNVs and TP53 mutation types von Silva, Amanda G, Achatz, Isabel Maria W, Krepischi, Ana Cv, Pearson, Peter L, Rosenberg, Carla

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Germline DNA copy number variation in familial and early-onset breast cancer von Krepischi, Ana Cv, Achatz, Maria Isabel W, Santos, Erika Mm, Costa, Silvia S, Lisboa, Bianca Cg, Brentani, Helena, Santos, Tiago M, Gonçalves, Amanda, Nóbrega, Amanda F, Pearson, Peter L, Vianna-Morgante, Angela M, Carraro, Dirce M, Brentani, Ricardo R, Rosenberg, Carla

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Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome von Kratz, Christian P, Achatz, Maria Isabel, Brugières, Laurence, Frebourg, Thierry, Garber, Judy E, Greer, Mary-Louise C, Hansford, Jordan R, Janeway, Katherine A, Kohlmann, Wendy K, McGee, Rose, Mullighan, Charles G, Onel, Kenan, Pajtler, Kristian W, Pfister, Stefan M, Savage, Sharon A, Schiffman, Joshua D, Schneider, Katherine A, Strong, Louise C, Evans, D Gareth R, Wasserman, Jonathan D, Villani, Anita, Malkin, David

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Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect von Garritano, Sonia, Gemignani, Federica, Palmero, Edenir Inez, Olivier, Magali, Martel-Planche, Ghyslaine, Le Calvez-Kelm, Florence, Brugiéres, Laurence, Vargas, Fernando Regla, Brentani, Ricardo Renzo, Ashton-Prolla, Patricia, Landi, Stefano, Tavtigian, Sean V, Hainaut, Pierre, Achatz, Maria Isabel W

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Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility von Samuel, Nardin, Wilson, Gavin, Lemire, Mathieu, Id Said, Badr, Lou, Youliang, Li, Weili, Merino, Diana, Novokmet, Ana, Tran, James, Nichols, Kim E, Finlay, Jonathan L, Choufani, Sanaa, Remke, Marc, Ramaswamy, Vijay, Cavalli, Florence M G, Elser, Christine, Meister, Lynn, Taylor, Michael D, Tabori, Uri, Irwin, Meredith, Weksberg, Rosanna, Wasserman, Jonathan D, Paterson, Andrew D, Hansford, Jordan R, Achatz, Maria Isabel W, Hudson, Thomas J, Malkin, David

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Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li–Fraumeni cancer predisposition syndrome von Ariffin, Hany, Hainaut, Pierre, Puzio-Kuter, Anna, Choong, Soo Sin, Chan, Adelyne Sue Li, Tolkunov, Denis, Rajagopal, Gunaretnam, Kang, Wenfeng, Lim, Leon Li Wen, Krishnan, Shekhar, Chen, Kok-Siong, Achatz, Maria Isabel, Karsa, Mawar, Shamsani, Jannah, Levine, Arnold J., Chan, Chang S.

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Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome von Montellier, Emilie, Lemonnier, Nathanaël, Penkert, Judith, Freycon, Claire, Blanchet, Sandrine, Amadou, Amina, Chuffart, Florent, Fischer, Nicholas W., Achatz, Maria-Isabel, Levine, Arnold J., Goudie, Catherine, Malkin, David, Bougeard, Gaëlle, Kratz, Christian P., Hainaut, Pierre

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Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing von Soares, Barbara Luísa, Brant, Ayslan Castro, Gomes, Renan, Pastor, Tatiane, Schneider, Naye Balzan, Ribeiro-dos-Santos, Ândrea, de Assumpção, Paulo Pimentel, Achatz, Maria Isabel W., Ashton-Prolla, Patrícia, Moreira, Miguel Angelo Martins

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Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion von Silva, Amanda Gonçalves, Ewald, Ingrid Petroni, Sapienza, Marina, Pinheiro, Manuela, Peixoto, Ana, de Nóbrega, Amanda França, Carraro, Dirce M, Teixeira, Manuel R, Ashton-Prolla, Patricia, Achatz, Maria Isabel W, Rosenberg, Carla, Krepischi, Ana C V

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A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes von Shlien, Adam, Baskin, Berivan, Achatz, Maria Isabel W., Stavropoulos, Dimitrios J., Nichols, Kim E., Hudgins, Louanne, Morel, Chantal F., Adam, Margaret P., Zhukova, Nataliya, Rotin, Lianne, Novokmet, Ana, Druker, Harriet, Shago, Mary, Ray, Peter N., Hainaut, Pierre, Malkin, David

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Molecular characterization of choroid plexus tumors reveals novel clinically relevant subgroups von Merino, Diana M, Shlien, Adam, Villani, Anita, Pienkowska, Malgorzata, Mack, Stephen, Ramaswamy, Vijay, Shih, David, Tatevossian, Ruth, Novokmet, Ana, Choufani, Sanaa, Dvir, Rina, Ben-Arush, Myran, Harris, Brent T, Hwang, Eugene I, Lulla, Rishi, Pfister, Stefan M, Achatz, Maria Isabel, Jabado, Nada, Finlay, Jonathan L, Weksberg, Rosanna, Bouffet, Eric, Hawkins, Cynthia, Taylor, Michael D, Tabori, Uri, Ellison, David W, Gilbertson, Richard J, Malkin, David

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Abstract 4287: HABP2 p.G534E variant in patients with family history of thyroid and breast cancer von Pinheiro, Maisa, Drigo, Sandra A., Marchi, Fabio A., Tonhosolo, Renata, Andrade, Sonia C., Jurisica, Igor, Kowalski, Luiz P., Achatz, Maria Isabel W., Rogatto, Silvia R.

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