Case report: Response to platinum agents and poly (adenosine diphosphate-ribose) polymerase inhibitor in a patient with BRCA1 c.5096G>A (R1699Q) intermediate-risk variant

Case report: Response to platinum agents and poly (adenosine diphosphate-ribose) polymerase inhibitor in a patient with BRCA1 c.5096G>A (R1699Q) intermediate-risk variant

Background: BRCA1 c.5096G>A (p. Arg1699Gln) (hereinafter BRCA1 R1699Q) is classified as a pathogenic genetic variant despite its lower penetrance of breast and ovarian cancers compared to other BRCA1 variants. However, this mutation is currently reported as a 'special interpretation' va...

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Bibliographic Details
Main Authors: Ayumi Saito, Maki Tanioka, Makoto Hirata, Tomoko Watanabe, Yoko Odaka, Tatsunori Shimoi, Kazuki Sudo, Emi Noguchi, Mitsuya Ishikawa, Kan Yonemori
Format: Article
Language:English
Published: Elsevier 2022-01-01
Series:Cancer Treatment and Research Communications
Subjects:
BRCA1
Genetic variant
Platinum
Poly (adenosine diphosphate-ribose) polymerase (PARP) inhibitor
Peritoneal cancer
Progression-free survival
Online Access:http://www.sciencedirect.com/science/article/pii/S2468294222000776

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http://www.sciencedirect.com/science/article/pii/S2468294222000776

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