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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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
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author 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
author_facet 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
author_sort Yamamoto, Shinya
collection PubMed
description 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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spelling pubmed-102901952023-06-25 BRCA2 reversion mutation confers resistance to olaparib in breast cancer 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 Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-06-23 /pmc/articles/PMC10290195/ /pubmed/37361653 http://dx.doi.org/10.1002/ccr3.7537 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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
BRCA2 reversion mutation confers resistance to olaparib in breast cancer
title BRCA2 reversion mutation confers resistance to olaparib in breast cancer
title_full BRCA2 reversion mutation confers resistance to olaparib in breast cancer
title_fullStr BRCA2 reversion mutation confers resistance to olaparib in breast cancer
title_full_unstemmed BRCA2 reversion mutation confers resistance to olaparib in breast cancer
title_short BRCA2 reversion mutation confers resistance to olaparib in breast cancer
title_sort brca2 reversion mutation confers resistance to olaparib in breast cancer
topic Case Report
url 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
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