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Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.

Human genetics - 1 Feb 2021

Horiuchi Yasue, Matsubayashi Hiroyuki, Kiyozumi Yoshimi, Nishimura Seiichiro, Higashigawa Satomi, Kado Nobuhiro, Nagashima Takeshi, Mizuguchi Maki, Ohnami Sumiko, Arai Makoto, Urakami Kenichi, Kusuhara Masatoshi, Yamaguchi Ken

Abstract excerpt

High-throughput sequencing has greatly contributed to precision medicine. However, challenges remain in reporting secondary findings (SFs) of germline pathogenic variants and managing the affected patients. The aim of this study was to examine the incidence of SFs in Japanese cancer patients using whole exome sequencing (WES) and to understand patient preferences regarding SF disclosure. WES was conducted for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32710294
DOI: 10.1007/s00439-020-02207-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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