Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation

著者: Andrade, Kelvin C., Santiago, Karina M., Fortes, Fernanda P., Mambelli, Lisley I., Nóbrega, Amanda F., Achatz, Maria I.
出版年 Genet Mol Biol (2016)

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

著者: 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.
出版年 Hum Mutat (2018)

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study

著者: Kim, Jung, Gianferante, Matthew, Karyadi, Danielle M, Hartley, Stephen W, Frone, Megan N, Luo, Wen, Robison, Leslie L, Armstrong, Gregory T, Bhatia, Smita, Dean, Michael, Yeager, Meredith, Zhu, Bin, Song, Lei, Sampson, Joshua N, Yasui, Yutaka, Leisenring, Wendy M, Brodie, Seth A, de Andrade, Kelvin C, Fortes, Fernanda P, Goldstein, Alisa M, Khincha, Payal P, Machiela, Mitchell J, McMaster, Mary L, Nickerson, Michael L, Oba, Leatrisse, Pemov, Alexander, Pinheiro, Maisa, Rotunno, Melissa, Santiago, Karina, Wegman-Ostrosky, Talia, Diver, W Ryan, Teras, Lauren, Freedman, Neal D, Hicks, Belynda D, Zhu, Bin, Wang, Mingyi, Jones, Kristine, Hutchinson, Amy A, Dagnall, Casey, Savage, Sharon A, Tucker, Margaret A, Chanock, Stephen J, Morton, Lindsay M, Stewart, Douglas R, Mirabello, Lisa
出版年 JNCI Cancer Spectr (2021)

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

著者: 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.
出版年 Genome Med (2018)