Maria Isabel Achatz, M.D., Ph.D.


Clinical Genetics Branch


9609 Medical Center Drive
Room SG/6E508
Rockville, MD 20850


Research Topics

Dr. Maria Isabel Achatz's work as a physician-scientist is translational; she works both in clinical settings and the laboratory. In 2007, she described the high prevalence of LFS patients in Brazil due to the the founder p.R337H TP53 germline mutation. Her primary research interests include:

  • Clinical diagnosis and molecular basis of LFS, in particular the prevalence of the Brazilian founder mutation
  • Early detection and innovative screening methods for LFS
  • Genomic pattern and expression profile in tumors developed by carriers of germline TP53 mutations
  • Clinical and molecular diagnosis of Xeroderma Pigmentosum syndrome


Dr. Achatz received her medical degree at Faculdade de Medicina do ABC, São Paulo, Brazil, and completed residency training in Medical Genetics. She received a Master´s Degree in Science (Oncology) at Fundação Antonio Prudente, São Paulo, and completed her doctorate at the Universidade de São Paulo. Dr. Achatz joined the Department of Oncogenetics at A.C. Camargo Cancer Center as a part of Medical Staff in 2003. In 2004, she completed a fellowship at the International Agency for Research on Cancer in Lyon, France, as Visiting Scientist on Li-Fraumeni syndrome (LFS) studies. In 2005, she became Director of the Department of Oncogenetics at A.C. Camargo Cancer Center, the main referral center for Oncogenetics in Brazil. Dr. Achatz was nominated as coordinator of the Oncogenetics Department at the Brazilian Society of Medical Genetics in 2009. In 2010, she became the Head of the Laboratory of Molecular Oncogenetics at the International Center for Research, A.C. Camargo Cancer Center. In 2016, she was appointed as a tenure-track investigator in the Division and head of the NCI LFS Study.

Selected Publications

  1. Achatz MI, Hainaut P, Ashton-Prolla P. Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? Lancet Oncol. 2009;10(9):920-5.

  2. Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, Brugiéres L, Vargas FR, Brentani RR, Ashton-Prolla P, Landi S, Tavtigian SV, Hainaut P, Achatz MI. Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat. 2010;31(2):143-50.

  3. Santiago KM, França de Nóbrega A, Rocha RM, Rogatto SR, Achatz MI. Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population. Int J Mol Sci. 2015;16(4):8988-96.

  4. Andrade KC, Santiago KM, Fortes FP, Mambelli LI, Nóbrega AF, Achatz MI. Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. Genet Mol Biol. 2016;39(2):199-202.

This page was last updated on April 20th, 2017