BRCA2 reversion mutation confers resistance to olaparib in breast cancer

Autor:	Shinya Yamamoto, Kei Kawashima, Yoshie Fujiwara, Shoko Adachi, Kazutaka Narui, Chiaki Hosaka, Rina Takahashi, Sho Tsuyuki, Makoto Sugimori, Miki Tanoshima, Mahato Sasamoto, Masanori Oshi, Akimitsu Yamada, Chikara Kunisaki, Itaru Endo
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	BRCA breast neoplasms genomics olaparib Medicine Medicine (General) R5-920
Zdroj:	Clinical Case Reports, Vol 11, Iss 6, Pp n/a-n/a (2023)
Druh dokumentu:	article
ISSN:	2050-0904
DOI:	10.1002/ccr3.7537
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/cc65ef0df3474660a8f3df4a39f5f653 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.