• 1593 Citations
  • 18 h-Index
20072019
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Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 7 Similar Profiles
Li-Fraumeni Syndrome Medicine & Life Sciences
Germ-Line Mutation Medicine & Life Sciences
Mutation Medicine & Life Sciences
Neoplasms Medicine & Life Sciences
Brazil Medicine & Life Sciences
Breast Neoplasms Medicine & Life Sciences
Melanoma Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2007 2019

1 Citation (Scopus)

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

de Andrade, K. C., Frone, M. N., Wegman-Ostrosky, T., Khincha, P. P., Kim, J., Amadou, A., Santiago, K. M., Fortes, F. P., Lemonnier, N., Mirabello, L., Stewart, D. R., Hainaut, P., Kowalski, L. P., Savage, S. A. & Achatz, M. I. A. S. W., Jan 1 2019, In : Human mutation. 40, 1, p. 97-105 9 p.

Research output: Contribution to journalArticle

Population
Penetrance
Databases
Neoplasms
Phenotype

Complex landscape of germline variants in Brazilian patients with hereditary and early onset breast cancer

Torrezan, G. T., de Almeida, F. G. D. S. R., Figueiredo, M. C. P., Barros, B. D. D. F., de Paula, C. A. A., Valieris, R., de Souza, J. E. S., Ramalho, R. F., da Silva, F. C. C., Ferreira, E. N., de Nóbrega, A. F., Felicio, P. S., Achatz, M. I. A. S. W., de Souza, S. J., Palmero, E. I. & Carraro, D. M. C., May 7 2018, In : Frontiers in Genetics. 9, MAY, 161.

Research output: Contribution to journalArticle

Breast Neoplasms
Neoplasm Genes
Exome
Genes
DNA Repair
2 Citations (Scopus)

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome

Brazilian Lynch Syndrome Study Group, May 1 2018, In : Cancer medicine. 7, 5, p. 2078-2088 11 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Colorectal Neoplasms
DNA Mismatch Repair
Germ-Line Mutation
Gene Rearrangement
1 Citation (Scopus)

Mouse homolog of the human TP53 R337H mutation reveals its role in tumorigenesis

Park, J. H., Li, J., Starost, M. F., Liu, C., Zhuang, J., Chen, J., Achatz, M. I. A. S. W., Kang, J. G., Wang, P. Y., Savage, S. A. & Hwang, P. M., Sep 15 2018, In : Cancer Research. 78, 18, p. 5375-5383 9 p.

Research output: Contribution to journalArticle

Carcinogenesis
Mutation
Li-Fraumeni Syndrome
Diethylnitrosamine
Germ-Line Mutation
1 Citation (Scopus)

p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers

Macedo, G. S., Vieira, I. A., Vianna, F. S. L., Alemar, B., Giacomazzi, J., Brandalize, A. P. C., Caleffi, M., Volc, S. M., de Campos Reis Galvão, H., Palmero, E. I., Achatz, M. I. A. S. W. & Ashton-Prolla, P., Apr 1 2018, In : Familial Cancer. 17, 2, p. 269-274 6 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Single Nucleotide Polymorphism
Neoplasms
Genotype