BRCA2 reversion mutation confers resistance to olaparib in breast cancer

Key Clinical MessageA rare missense mutation was identified as a reversion mutation using cancer genomic profiling and a suspected mechanism underlying resistance to olaparib in breast cancer. AbstractA 34-year-old woman with breast cancer and BRCA2: p.Gln3047Ter was treated with olaparib. After tum...

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Bibliographic Details
Published in:Clinical case reports 2023, Vol.11 (6), p.e7537-e7537
Main Authors: 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
Format: Report
Language:English
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Summary:Key Clinical MessageA rare missense mutation was identified as a reversion mutation using cancer genomic profiling and a suspected mechanism underlying resistance to olaparib in breast cancer. AbstractA 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.7537