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1.

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de 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.

Hum Mutat ; 40(1): 97-105, 2019 01.

Article in English | MEDLINE | ID: mdl-30352134

2.

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.

Genet Mol Biol ; 39(2): 199-202, 2016 May 24.

Article in English | MEDLINE | ID: mdl-27223487

3.

Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.

de 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.

Hum Mutat ; 40(6): 832-833, 2019 06.

Article in English | MEDLINE | ID: mdl-30997946

4.

Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition.

Mai, Phuong L; Sand, Sharon R; Saha, Neiladri; Oberti, Mauricio; Dolafi, Tom; DiGianni, Lisa; Root, Elizabeth J; Kong, Xianhua; Bremer, Renee C; Santiago, Karina M; Bojadzieva, Jasmina; Barley, Derek; Novokmet, Ana; Ketchum, Karen A; Nguyen, Ngoc; Jacob, Shine; Nichols, Kim E; Kratz, Christian P; Schiffman, Joshua D; Evans, D Gareth; Achatz, Maria Isabel; Strong, Louise C; Garber, Judy E; Ladwa, Sweta A; Malkin, David; Weitzel, Jeffrey N.

Cancer Epidemiol Biomarkers Prev ; 29(5): 927-935, 2020 05.

Article in English | MEDLINE | ID: mdl-32156722

5.

XAF1 as a modifier of p53 function and cancer susceptibility.

Pinto, Emilia M; Figueiredo, Bonald C; Chen, Wenan; Galvao, Henrique C R; Formiga, Maria Nirvana; Fragoso, Maria Candida B V; Ashton-Prolla, Patricia; Ribeiro, Enilze M S F; Felix, Gabriela; Costa, Tatiana E B; Savage, Sharon A; Yeager, Meredith; Palmero, Edenir I; Volc, Sahlua; Salvador, Hector; Fuster-Soler, Jose Luis; Lavarino, Cinzia; Chantada, Guillermo; Vaur, Dominique; Odone-Filho, Vicente; Brugières, Laurence; Else, Tobias; Stoffel, Elena M; Maxwell, Kara N; Achatz, Maria Isabel; Kowalski, Luis; de Andrade, Kelvin C; Pappo, Alberto; Letouze, Eric; Latronico, Ana Claudia; Mendonca, Berenice B; Almeida, Madson Q; Brondani, Vania B; Bittar, Camila M; Soares, Emerson W S; Mathias, Carolina; Ramos, Cintia R N; Machado, Moara; Zhou, Weiyin; Jones, Kristine; Vogt, Aurelie; Klincha, Payal P; Santiago, Karina M; Komechen, Heloisa; Paraizo, Mariana M; Parise, Ivy Z S; Hamilton, Kayla V; Wang, Jinling; Rampersaud, Evadnie; Clay, Michael R.

Sci Adv ; 6(26): eaba3231, 2020 06.

Article in English | MEDLINE | ID: mdl-32637605

6.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Kim, Jung; Luo, Wen; Wang, Mingyi; Wegman-Ostrosky, Talia; Frone, Megan N; Johnston, Jennifer J; Nickerson, Michael L; Rotunno, Melissa; Li, Shengchao A; Achatz, Maria I; Brodie, Seth A; Dean, Michael; de Andrade, Kelvin C; Fortes, Fernanda P; Gianferante, Matthew; Khincha, Payal; McMaster, Mary L; McReynolds, Lisa J; Pemov, Alexander; Pinheiro, Maisa; Santiago, Karina M; Alter, Blanche P; Caporaso, Neil E; Gadalla, Shahinaz M; Goldin, Lynn R; Greene, Mark H; Loud, Jennifer; Yang, Xiaohong R; Freedman, Neal D; Gapstur, Susan M; Gaudet, Mia M; Calista, Donato; Ghiorzo, Paola; Fargnoli, Maria Concetta; Nagore, Eduardo; Peris, Ketty; Puig, Susana; Landi, Maria Teresa; Hicks, Belynda; Zhu, Bin; Liu, Jia; Sampson, Joshua N; Chanock, Stephen J; Mirabello, Lisa J; Morton, Lindsay M; Biesecker, Leslie G; Tucker, Margaret A; Savage, Sharon A; Goldstein, Alisa M; Stewart, Douglas R.

Genome Med ; 10(1): 99, 2018 12 24.

Article in English | MEDLINE | ID: mdl-30583724

7.

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.

J Mol Med (Berl) ; 95(5): 523-533, 2017 05.

Article in English | MEDLINE | ID: mdl-28093616

8.

Genomics and epidemiology for gastric adenocarcinomas (GE4GAC): a Brazilian initiative to study gastric cancer

Bartelli, Thais F; Abrantes, Lais L Senda; Freitas, Helano C; Thomas, Andrew M; Silva, Jordana M; Albuquerque, Gabriela E; Araújo, Luiza F; Branco, Gabriela P; Amorim, Maria G; Serpa, Marianna S; Takenaka, Isabella K T M; Souza, Deborah T; Monção, Lucas O; Moda, Bruno S; Valieris, Renan; Defelicibus, Alexandre; Borges, Rodrigo; Drummond, Rodrigo D; Alves, Francisco I A; Santos, Monize N P; Bobrovnitchaia, Irina G; Elhaik, Eran; Coelho, Luiz G V; Khayat, André; Demachki, Samia; Assumpção, Paulo P; Santiago, Karina M; Torrezan, Giovana T; Carraro, Dirce M; Peres, Stela V; Calsavara, Vinícius F; Burbano, Rommel; Nóbrega, Calebe R; Baladão, Graziela P P B; Pereira, Ana C C; Gatti, Camila M; Fagundes, Marcela A; Araújo, Marília S; Miranda, Tayana V; Barbosa, Monica S; Cardoso, Daniela M M; Carneiro, Lilian C; Brito, Alexandre M; Ramos, Amanda F P L; Silva, Lucas L L; Pontes, Jaqueline C; Tiengo, Tatiane; Arantes, Paola E; Santana, Vilma; Cordeiro, Milena; Sant'Ana, Rosane O; Andrade, Hanna B; Anaissi, Ana K M; Sampaio, Sara V; Abdallah, Emne A; Chinen, Ludmilla T D; Braun, Alexcia C; Flores, Bianca C T; Mello, Celso A L; Claro, Laura C L; Sztokfisz, Claudia Z; Altamirano, Carlos C; Carter, David R F; Jesus, Victor H F; Riechelmann, Rachel; Medina, Tiago; Gollob, Kenneth J; Martins, Vilma R; Setúbal, João C; Pelosof, Adriane G; Coimbra, Felipe J; Costa-Jr, Wilson L; Silva, Israel T; Nunes, Diana N; Curado, Maria P; Dias-Neto, Emmanuel.

Appl. cancer res ; 39: 1-4, 2019.

Article in English | LILACS, Inca | ID: biblio-1254174

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