Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome.

doi:10.1038/s10038-021-00927-9

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Article

Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome.

Journal of human genetics - 1 Nov 2021

Yamaguchi Kiyoshi, Kasajima Rika, Takane Kiyoko, Hatakeyama Seira, Shimizu Eigo, Yamaguchi Rui, Katayama Kotoe, Arai Masami, Ishioka Chikashi, Iwama Takeo, Kaneko Satoshi, Matsubara Nagahide, Moriya Yoshihiro, Nomizu Tadashi, Sugano Kokichi, Tamura Kazuo, Tomita Naohiro, Yoshida Teruhiko, Sugihara Kenichi, Nakamura Yusuke, Miyano Satoru, Imoto Seiya, Furukawa Yoichi, Ikenoue Tsuneo

Abstract excerpt

Lynch syndrome is a hereditary disease characterized by an increased risk of colorectal and other cancers. Germline variants in the mismatch repair (MMR) genes are responsible for this disease. Previously, we screened the MMR genes in colorectal cancer patients who fulfilled modified Amsterdam II criteria, and multiplex ligation-dependent probe amplification (MPLA) identified 11 structural variants (SVs) of MLH1...

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PMID: 33958709
DOI: 10.1038/s10038-021-00927-9

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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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