BRCA2 reversion mutation confers resistance to olaparib in breast cancer

KEY CLINICAL MESSAGE: A rare missense mutation was identified as a reversion mutation using cancer genomic profiling and a suspected mechanism underlying resistance to olaparib in breast cancer. ABSTRACT: A 34‐year‐old woman with breast cancer and BRCA2: p.Gln3047Ter was treated with olaparib. After...

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Detalles Bibliográficos
Autores principales: Yamamoto, Shinya, Kawashima, Kei, Fujiwara, Yoshie, Adachi, Shoko, Narui, Kazutaka, Hosaka, Chiaki, Takahashi, Rina, Tsuyuki, Sho, Sugimori, Makoto, Tanoshima, Miki, Sasamoto, Mahato, Oshi, Masanori, Yamada, Akimitsu, Kunisaki, Chikara, Endo, Itaru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290195/
https://www.ncbi.nlm.nih.gov/pubmed/37361653
http://dx.doi.org/10.1002/ccr3.7537
Descripción
Sumario:KEY CLINICAL MESSAGE: A rare missense mutation was identified as a reversion mutation using cancer genomic profiling and a suspected mechanism underlying resistance to olaparib in breast cancer. ABSTRACT: A 34‐year‐old woman with breast cancer and BRCA2: p.Gln3047Ter was treated with olaparib. After tumor progression, cancer genomic profiling testing using liquid biopsy revealed BRCA2 p.Gln3047Ter and p.Gln3047Tyr, with 48.9% and 0.37% allele frequency, respectively. These findings shed light on reversion mutation as a mechanism of resistance to olaparib in breast cancer.

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