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Article

Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs.

Cold Spring Harbor molecular case studies - 1 Nov 2016

Kukita Yoji, Okami Jiro, Yoneda-Kato Noriko, Nakamae Ikuko, Kawabata Takeshi, Higashiyama Masahiko, Kato Junya, Kodama Ken, Kato Kikuya

Abstract excerpt

In clinical practice, there are a number of cancer patients with clear family histories, but the patients lack mutations in known familial cancer syndrome genes. Recent advances in genomic technologies have enhanced the possibility of identifying causative genes in such cases. Two siblings, an elder sister and a younger brother, were found to have multiple primary lung cancers at the age of 60. The former...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27900359
DOI: 10.1101/mcs.a001032
PMCID: PMC5111006

Genes

CHEK2
FCGRT
SFI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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