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Article

Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients.

Journal of human genetics - 1 Jul 2018

Apostolou Paraskevi, Fostira Florentia, Mollaki Vasiliki, Delimitsou Angeliki, Vlassi Metaxia, Pentheroudakis George, Faliakou Eleni, Kollia Panagoula, Fountzilas George, Yannoukakos Drakoulis, Konstantopoulou Irene

Abstract excerpt

Germline CHEK2 mutations confer increased cancer risk, for breast and other types, which is variable depending on the specific mutation. Of these, Large Genomic Rearrangements (LGRs) have been rarely reported; to date only eight LGRs have been published with just the Czech founder mutation, the deletion of exons 9 and 10, being molecularly characterized and studied extensively. The present study aimed to...

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Identifiers

PMID: 29785007
DOI: 10.1038/s10038-018-0466-3

Genes

CHEK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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