Leandro Jonata Carvalho Oliveira, Medical Oncologist at Einstein Hospital Israelita, shared a post on LinkedIn:
“What are the therapeutic implications-particularly regarding PARP inhibitors-of germline reduced-penetrance pathogenic variants (RPPVs) in BRCA?
In our Molecular Tumor Board discussion, published in JCO Precision Oncology, we address this question through a real-world case and a focused literature review.
Cancer genetics care is increasingly viewed as a continuum-shifting from gene-level to variant-level risk stratification. In this context, it is essential to consider not only the cancer risk associated with RPPVs, but also their therapeutic implications.
I would like to thank Dr. Diocesio Andrade for leading this project, and all co-authors for their contributions.
I would also like to thank the international cancer genetics specialists for their valuable insights in this challenging scenario: Alvaro Monteiro, Rachid Karam, Fergus Couch, Tuya Pal.”
Title: Clinical Response to Poly(ADP-ribose) Polymerase Inhibitor in Metastatic Breast Cancer With a Germline Reduced-Penetrance BRCA2 Pathogenic Variant: A Molecular Tumor Board Discussion
Authors: Diocésio Alves Pinto de Andrade, Carlos Alberto Fruet Filho, Cristiane Alves Mendes, Eduardo Miguel Febrônio, Viviane Fernandes Schiavon, Carolina de Bustamante Fernandes, Fernanda Christtanini Koyama, Patrícia Ashton-Prolla, Rodrigo Dienstmann, Leandro Jonata de Carvalho Oliveira
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