Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

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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Profiles

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