• 1618 Citations
  • 18 h-Index
20072019
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  • 6 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

Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence

Young, J. L., Pantaleao, A., Zaspel, L., Bayer, J., Peters, J. A., Khincha, P. P., Bremer, R. C., Loud, J. T., Greene, M. H., Achatz, M. I. A. S. W., Savage, S. A. & Werner-Lin, A., Mar 4 2019, In : Journal of Psychosocial Oncology. 37, 2, p. 178-193 16 p.

Research output: Contribution to journalArticle

Li-Fraumeni Syndrome
Uncertainty
Risk Management
Neoplasms
Mental Health

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

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., Jun 1 2019, In : Human mutation. 40, 6, p. 832-833 2 p.

Research output: Contribution to journalLetter

Li-Fraumeni Syndrome
3 Citations (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