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Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.

Cancer science - 1 Aug 2021

Senda Noriko, Kawaguchi-Sakita Nobuko, Kawashima Masahiro, Inagaki-Kawata Yukiko, Yoshida Kenichi, Takada Masahiro, Kataoka Masako, Torii Masae, Nishimura Tomomi, Kawaguchi Kosuke, Suzuki Eiji, Kataoka Yuki, Matsumoto Yoshiaki, Yoshibayashi Hiroshi, Yamagami Kazuhiko, Tsuyuki Shigeru, Takahara Sachiko, Yamauchi Akira, Shinkura Nobuhiko, Kato Hironori, Moriguchi Yoshio, Okamura Ryuji, Kan Norimichi, Suwa Hirofumi, Sakata Shingo, Mashima Susumu, Yotsumoto Fumiaki, Tachibana Tsuyoshi, Tanaka Mitsuru, Togashi Kaori, Haga Hironori, Yamada Takahiro, Kosugi Shinji, Inamoto Takashi, Sugimoto Masahiro, Ogawa Seishi, Toi Masakazu

Abstract excerpt

Predicting pathogenic germline variants (PGVs) in breast cancer patients is important for selecting optimal therapeutics and implementing risk reduction strategies. However, PGV risk factors and the performance of prediction methods in the Japanese population remain unclear. We investigated clinicopathological risk factors using the Tyrer-Cuzick (TC) breast cancer risk evaluation tool to predict BRCA PGVs in...

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Identifiers

PMID: 34036661
DOI: 10.1111/cas.14986
PMCID: PMC8353892

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BRCA1
BRCA2
PALB2

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