Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
Andrade, Kelvin C, Santiago, Karina M, Fortes, Fernanda P, Mambelli, Lisley I, Nóbrega, Amanda F, Achatz, Maria I
Published in Genetics and molecular biology (24.05.2016)
Published in Genetics and molecular biology (24.05.2016)
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Journal Article
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
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
Published in European journal of human genetics : EJHG (01.03.2014)
Published in European journal of human genetics : EJHG (01.03.2014)
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Journal Article
HER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndrome
Bottosso, Michele, Sandoval, Renata L., Verret, Benjamin, Polidorio, Natalia, Caron, Olivier, Gennari, Alessandra, Bychkovsky, Brittany L., Cahill, Sophie H., Achatz, Maria I., Guarneri, Valentina, André, Fabrice, Garber, Judy E.
Published in European journal of cancer (1990) (01.11.2024)
Published in European journal of cancer (1990) (01.11.2024)
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Journal Article
Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis
Kratz, Christian P, Freycon, Claire, Maxwell, Kara N, Nichols, Kim E, Schiffman, Joshua D, Evans, D Gareth, Achatz, Maria I, Savage, Sharon A, Weitzel, Jeffrey N, Garber, Judy E, Hainaut, Pierre, Malkin, David
Published in JAMA oncology (01.12.2021)
Published in JAMA oncology (01.12.2021)
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Journal Article
Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis
Andrade, Kelvin C., Frone, Megan N., Wegman‐Ostrosky, Talia, Khincha, Payal P., Kim, Jung, Amadou, Amina, Santiago, Karina M., Fortes, Fernanda P., Lemonnier, Nathanaël, Mirabello, Lisa, Stewart, Douglas R., Hainaut, Pierre, Kowalski, Luiz P., Savage, Sharon A., Achatz, Maria I.
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
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Journal Article
Mouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis
Park, Ji-Hoon, Li, Jie, Starost, Matthew F, Liu, Chengyu, Zhuang, Jie, Chen, Jichun, Achatz, Maria I, Kang, Ju-Gyeong, Wang, Ping-Yuan, Savage, Sharon A, Hwang, Paul M
Published in Cancer research (Chicago, Ill.) (15.09.2018)
Published in Cancer research (Chicago, Ill.) (15.09.2018)
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Journal Article
Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes
Villacis, Rolando A.R., Miranda, Priscila M., Gomy, Israel, Santos, Erika M.M., Carraro, Dirce M., Achatz, Maria I., Rossi, Benedito M., Rogatto, Silvia R.
Published in International journal of cancer (15.04.2016)
Published in International journal of cancer (15.04.2016)
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Journal Article
Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic
Andrade, Kelvin C., Frone, Megan N., Wegman‐Ostrosky, Talia, Khincha, Payal P., Kim, Jung, Amadou, Amina, Santiago, Karina M., Fortes, Fernanda P., Lemonnier, Nathanaël, Mirabello, Lisa, Stewart, Douglas R., Hainaut, Pierre, Kowalski, Luiz P., Savage, Sharon A., Achatz, Maria I.
Published in Human mutation (01.06.2019)
Published in Human mutation (01.06.2019)
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Journal Article
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients
Silva, Felipe C, Lisboa, Bianca Cg, Figueiredo, Marcia Cp, Torrezan, Giovana T, Santos, Erika Mm, Krepischi, Ana C, Rossi, Benedito M, Achatz, Maria I, Carraro, Dirce M
Published in BMC genetics (15.05.2014)
Published in BMC genetics (15.05.2014)
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Journal Article
Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development
Villacis, Rolando A. R., Basso, Tatiane R., Canto, Luisa M., Pinheiro, Maísa, Santiago, Karina M., Giacomazzi, Juliana, de Paula, Cláudia A. A., Carraro, Dirce M., Ashton-Prolla, Patrícia, Achatz, Maria I., Rogatto, Silvia R.
Published in Journal of molecular medicine (Berlin, Germany) (01.05.2017)
Published in Journal of molecular medicine (Berlin, Germany) (01.05.2017)
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Journal Article
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer
Torrezan, Giovana T, de Almeida, Fernanda G Dos Santos R, Figueiredo, Márcia C P, Barros, Bruna D de Figueiredo, de Paula, Cláudia A A, Valieris, Renan, de Souza, Jorge E S, Ramalho, Rodrigo F, da Silva, Felipe C C, Ferreira, Elisa N, de Nóbrega, Amanda F, Felicio, Paula S, Achatz, Maria I, de Souza, Sandro J, Palmero, Edenir I, Carraro, Dirce M
Published in Frontiers in genetics (07.05.2018)
Published in Frontiers in genetics (07.05.2018)
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Journal Article
LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis
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
Published in Melanoma research (01.04.2015)
Published in Melanoma research (01.04.2015)
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DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients
Carraro, Dirce M., Krepischi, Ana C. V., Rosenberg, Carla, Campos, Antonio H. J. F. M., Achatz, Maria I., Maria-Engler, Silvya Stuchi, Pennacchi, Paula C., Kashiwabara, André Y., Pramio, Dimitrius T., de Araújo, Érica S. S., Duprat, João P.
Published in BioMed research international (01.01.2015)
Published in BioMed research international (01.01.2015)
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Journal Article
ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients
Villacis, Rolando A. R., Abreu, Francine B., Miranda, Priscila M., Domingues, Maria A. C., Carraro, Dirce M., Santos, Erika M. M., Andrade, Victor P., Rossi, Benedito M., Achatz, Maria I., Rogatto, Silvia R.
Published in Tumor biology (01.03.2016)
Published in Tumor biology (01.03.2016)
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Journal Article
Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome
Basso, Tatiane R, Villacis, Rolando A.R, Canto, Luisa M, Alves, Vinicius M.F, Lapa, Rainer M.L, Nóbrega, Amanda F, Achatz, Maria I, Rogatto, Silvia R
Published in Cancer genetics (01.06.2015)
Published in Cancer genetics (01.06.2015)
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Journal Article
Abstract 3316: Screening blood tests and cancer detection in Li-Fraumeni syndrome
Oba, Leatrisse, Loud, Jennifer T., Achatz, Maria I., Savage, Sharon A., Khincha, Payal P.
Published in Cancer research (Chicago, Ill.) (01.07.2019)
Published in Cancer research (Chicago, Ill.) (01.07.2019)
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Journal Article
Functional pri-miR-34b/c rs4938723 and KRAS 3′UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
Vieira, Igor Araujo, Pezzi, Eduarda Heidrich, Bandeira, Isabel Cristina, Reis, Larissa Brussa, de Araújo Rocha, Yasminne Marinho, Fernandes, Bruna Vieira, Siebert, Marina, Miyamoto, Kendi Nishino, Siqueira, Monique Banik, Achatz, Maria I., Galvão, Henrique de Campos Reis, Garcia, Felipe Antonio de Oliveira, Campacci, Natalia, Carraro, Dirce Maria, Formiga, Maria Nirvana, Vianna, Fernanda Sales Luiz, Palmero, Edenir Inez, Macedo, Gabriel S., Ashton-Prolla, Patricia
Published in Gene (10.03.2024)
Published in Gene (10.03.2024)
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Journal Article
Higher‐than‐expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history
Andrade, Kelvin César, Mirabello, Lisa, Stewart, Douglas R., Karlins, Eric, Koster, Roelof, Wang, Mingyi, Gapstur, Susan M., Gaudet, Mia M., Freedman, Neal D., Landi, Maria Teresa, Lemonnier, Nathanaël, Hainaut, Pierre, Savage, Sharon A., Achatz, Maria Isabel
Published in Human mutation (01.12.2017)
Published in Human mutation (01.12.2017)
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