Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer

por Megid, Thais Baccili Cury, Barros-Filho, Mateus C., Pisani, Janina Pontes, Achatz, Maria Isabel
Publicado 2022

Novel Insights From the Germline Landscape of Breast Cancer in Brazil

por Barbalho, Daniel, Sandoval, Renata, Santos, Erika, Pisani, Janina, Quirino, Carla, Garicochea, Bernardo, Rossi, Benedito, Achatz, Maria Isabel
Publicado 2022

Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature

por Oliveira, Leandro Jonata Carvalho, Gongora, Aline Bobato Lara, Lima, Fabiola Ambrosio Silveira, Canedo, Felipe Sales Nogueira Amorim, Quirino, Carla Vanessa, Pisani, Janina Pontes, Achatz, Maria Isabel, Rossi, Benedito Mauro
Publicado 2021

Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers

por Sandoval, Renata Lazari, Polidorio, Natalia, Leite, Ana Carolina Rathsam, Cartaxo, Mariana, Pisani, Janina Pontes, Quirino, Carla Vanessa, Cezana, Loureno, Pereira, Natálya Gonçalves, Pereira, Allan Andresson Lima, Rossi, Benedito Mauro, Achatz, Maria Isabel
Publicado 2022