Search Results - "Palmero, Edenir I."

Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome by Abreu, Renata B. V., Pereira, Ariane S., Rosa, Marcela N., Ashton-Prolla, Patricia, Silva, Viviane A. O., Melendez, Matias E., Palmero, Edenir I.

“…Germline TP53 pathogenic variants can lead to a cancer susceptibility syndrome known as Li–Fraumeni (LFS). Variants affecting its activity can drive…”
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Genetic cancer risk assessment: A screenshot of the psychosocial profile of women at risk for hereditary breast and ovarian cancer syndrome by Campacci, Natalia, Campos Reis Galvão, Henrique, Garcia, Lucas F., Ribeiro, Paula C., Grasel, Rebeca S., Goldim, José R., Ashton‐Prolla, Patrícia, Palmero, Edenir I.

“…Objective There is a lack of information describing Brazilian women at risk of hereditary breast and ovarian cancer syndrome (HBOC) who undergo genetic cancer…”
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Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil by 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

“…Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder…”
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Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome by Palmero, Edenir I, Achatz, Maria IW, Ashton-Prolla, Patricia, Olivier, Magali, Hainaut, Pierre

“…PURPOSE OF REVIEWGermline TP53 (tumor protein 53) mutations are the molecular basis of a complex cancer predisposition syndrome, the Li-Fraumeni syndrome. The…”
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Genotype‐phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol by de Oliveira, Junea C., Viana, Danilo V., Zanardo, Cleyton, Santos, Erika M. M., de Paula, André E., Palmero, Edenir I., Rossi, Benedito M.

“…Background Familial adenomatous polyposis (FAP) is a syndrome caused by germline pathogenic variants in the tumor suppressor gene adenomatous polyposis coli…”
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Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care by Ashton-Prolla, Patricia, Giacomazzi, Juliana, Schmidt, Aishameriane V, Roth, Fernanda L, Palmero, Edenir I, Kalakun, Luciane, Aguiar, Ernestina S, Moreira, Susana M, Batassini, Erica, Belo-Reyes, Vanessa, Schuler-Faccini, Lavinia, Giugliani, Roberto, Caleffi, Maira, Camey, Suzi Alves

“…Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer…”
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Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital by Palmero, Edenir I., Galvão, Henrique C. R., Fernandes, Gabriela C., Paula, André E. de, Oliveira, Junea C., Souza, Cristiano P., Andrade, Carlos E., Romagnolo, Luis G. C., Volc, Sahlua, Reis, R. M.

“…The identification of families at-risk for hereditary cancer is extremely important due to the prevention potential in those families. However, the number of…”
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Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer by Felicio, Paula S., Grasel, Rebeca S., Campacci, Natalia, Paula, Andre E., Galvão, Henrique C. R., Torrezan, Giovana T., Sabato, Cristina S., Fernandes, Gabriela C., Souza, Cristiano P., Michelli, Rodrigo D., Andrade, Carlos E., Barros, Bruna Durães De Figueiredo, Matsushita, Marcus M., Revil, Timothée, Ragoussis, Jiannis, Couch, Fergus J., Hart, Steven N., Reis, Rui M., Melendez, Matias E., Tonin, Patricia N., Carraro, Dirce M., Palmero, Edenir I.

“…The current study aimed to identify new breast and/or ovarian cancer predisposition genes. For that, whole‐exome sequencing (WES) was performed in the germline…”
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BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry by Friebel, Tara M., Andrulis, Irene L., Balmaña, Judith, Blanco, Amie M., Couch, Fergus J., Daly, Mary B., Domchek, Susan M., Easton, Douglas F., Foulkes, William D., Ganz, Patricia A., Garber, Judy, Glendon, Gord, Greene, Mark H., Hulick, Peter J., Isaacs, Claudine, Jankowitz, Rachel C., Karlan, Beth Y., Kirk, Judy, Kwong, Ava, Lee, Annette, Lesueur, Fabienne, Lu, Karen H., Nathanson, Katherine L., Neuhausen, Susan L., Offit, Kenneth, Palmero, Edenir I., Sharma, Priyanka, Tischkowitz, Marc, Toland, Amanda E., Tung, Nadine, Rensburg, Elizabeth J., Vega, Ana, Weitzel, Jeffrey N., Collaborators, GEMO Study, Hoskins, Kent F., Maga, Tara, Parsons, Michael T., McGuffog, Lesley, Antoniou, Antonis C., Chenevix‐Trench, Georgia, Huo, Dezheng, Olopade, Olufunmilayo I., Rebbeck, Timothy R.

“…BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European…”
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants by Li, Hongyan, Engel, Christoph, de la Hoya, Miguel, Peterlongo, Paolo, Yannoukakos, Drakoulis, Livraghi, Luca, Radice, Paolo, Thomassen, Mads, Hansen, Thomas V.O., Gerdes, Anne-Marie, Nielsen, Henriette R., Caputo, Sandrine M., Zambelli, Alberto, Borg, Ake, Solano, Angela, Thomas, Abigail, Parsons, Michael T., Antoniou, Antonis C., Leslie, Goska, Yang, Xin, Chenevix-Trench, Georgia, Caldes, Trinidad, Kwong, Ava, Pedersen, Inge Søkilde, Lautrup, Charlotte K., John, Esther M., Terry, Mary Beth, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., Tischkowitz, Marc, Janavicius, Ramunas, Boonen, Susanne E., Kroeldrup, Lone, Varesco, Liliana, Hamann, Ute, Vega, Ana, Palmero, Edenir I., Garber, Judy, Montagna, Marco, Van Asperen, Christi J., Foretova, Lenka, Greene, Mark H., Selkirk, Tina, Moller, Pal, Toland, Amanda E., Domchek, Susan M., James, Paul A., Thorne, Heather, Eccles, Diana M., Nielsen, Sarah M., Manoukian, Siranoush, Pasini, Barbara, Caligo, Maria A., Lazaro, Conxi, Kirk, Judy, Wappenschmidt, Barbara, Spurdle, Amanda B., Couch, Fergus J., Schmutzler, Rita, Goldgar, David E.

“…Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks…”
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Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers by Campanella, Nathália C, Berardinelli, Gustavo N, Scapulatempo-Neto, Cristovam, Viana, Danilo, Palmero, Edenir I, Pereira, Rui, Reis, Rui M

“…Microsatellite instability (MSI) testing has been advocated for all newly diagnosed colorectal cancer patients. One of the most common tests is composed by a…”
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Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry by Fernandes, Gabriela C., Michelli, Rodrigo A. D., Galvão, Henrique C. R., Paula, André E. de, Pereira, Rui, Andrade, Carlos E., Felicio, Paula S., Souza, Cristiano P., Mendes, Deise R. P., Reis, R. M.

“…Background: There are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA)…”
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants by Li, Hongyan, Engel, Christoph, Hoya, Miguel de la, Peterlongo, Paolo, Yannoukakos, Drakoulis, Livraghi, Luca, Radice, Paolo, Thomassen, Mads, Hansen, Thomas V.O., Gerdes, Anne-Marie, Nielsen, Henriette R., Caputo, Sandrine M., Zambelli, Alberto, Borg, Ake, Solano, Angela, Thomas, Abigail, Parsons, Michael T., Antoniou, Antonis C., Leslie, Goska, Yang, Xin, Chenevix-Trench, Georgia, Caldes, Trinidad, Kwong, Ava, Pedersen, Inge Søkilde, Lautrup, Charlotte K., John, Esther M., Terry, Mary Beth, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., Tischkowitz, Marc, Janavicius, Ramunas, Boonen, Susanne E., Kroeldrup, Lone, Varesco, Liliana, Hamann, Ute, Vega, Ana, Palmero, Edenir I., Garber, Judy, Montagna, Marco, Van Asperen, Christi J., Foretova, Lenka, Greene, Mark H., Selkirk, Tina, Moller, Pal, Toland, Amanda E., Domchek, Susan M., James, Paul A., Thorne, Heather, Eccles, Diana M., Nielsen, Sarah M., Manoukian, Siranoush, Pasini, Barbara, Caligo, Maria A., Lazaro, Conxi, Kirk, Judy, Wappenschmidt, Barbara, Spurdle, Amanda B., Couch, Fergus J., Schmutzler, Rita, Goldgar, David E.

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Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil by Palmero, Edenir I, Caleffi, Maira, Schüler-Faccini, Lavínia, Roth, Fernanda L, Kalakun, Luciane, Netto, Cristina Brinkmann Oliveira, Skonieski, Giovana, Giacomazzi, Juliana, Weber, Bernadete, Giugliani, Roberto, Camey, Suzi A, Ashton-Prolla, Patricia

“…In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a…”
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Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer by 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

“…Pathogenic variants in known breast cancer (BC) predisposing genes explain only about 30% of Hereditary Breast Cancer (HBC) cases, whereas the underlying…”
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Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study by Maciel, Rui M B, Camacho, Cleber P, Assumpção, Lígia V M, Bufalo, Natassia E, Carvalho, André L, de Carvalho, Gisah A, Castroneves, Luciana A, de Castro, Francisco M, Ceolin, Lucieli, Cerutti, Janete M, Corbo, Rossana, Ferraz, Tânia M B L, Ferreira, Carla V, França, M Inez C, Galvão, Henrique C R, Germano-Neto, Fausto, Graf, Hans, Jorge, Alexander A L, Kunii, Ilda S, Lauria, Márcio W, Leal, Vera L G, Lindsey, Susan C, Lourenço, Delmar M, Maciel, Léa M Z, Magalhães, Patrícia K R, Martins, João R M, Martins-Costa, M Cecília, Mazeto, Gláucia M F S, Impellizzeri, Anelise I, Nogueira, Célia R, Palmero, Edenir I, Pessoa, Cencita H C N, Prada, Bibiana, Siqueira, Débora R, Sousa, Maria Sharmila A, Toledo, Rodrigo A, Valente, Flávia O F, Vaisman, Fernanda, Ward, Laura S, Weber, Shana S, Weiss, Rita V, Yang, Ji H, Dias-da-Silva, Magnus R, Hoff, Ana O, Toledo, Sergio P A, Maia, Ana L

“…Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary…”
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Sequencing technology status of BRCA1/2 testing in Latin American Countries by Solano, Angela R., Palmero, Edenir I., Delgado, Lucía, Carraro, Dirce M., Ortíz-López, Rocío, Carranza, Claudia L., Santamaria, Carlos, Cifuentes, Laura, Jara Sosa, Lilian E., Toland, Amanda E.

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Identification of hereditary cancer in the general population: development and validation of a screening questionnaire for obtaining the family history of cancer by Campacci, Natalia, Lima, Juliana O., Carvalho, André L., Michelli, Rodrigo D., Haikel, Rafael, Mauad, Edmundo, Viana, Danilo V., Melendez, Matias E., Vazquez, Fabiana de L., Zanardo, Cleyton, Reis, Rui M., Rossi, Benedito M., Palmero, Edenir I.

“…One of the challenges for Latin American countries is to include in their healthcare systems technologies that can be applied to hereditary cancer detection…”
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Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes by Fernandes, Gabriela C, Michelli, Rodrigo A D, Scapulatempo-Neto, Cristovam, Palmero, Edenir I

“…Breast cancer (BC) is an important public health problem worldwide. In Brazil, breast cancer is the most frequently diagnosed tumor and the leading cause of…”
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification by Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Reis, R. M.

“…The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes…”
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