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BRCA2 Haploinsufficiency in Telomere Maintenance.

Genes - 28 Dec 2021

Gunnarsdottir Soffía R, Bjarnason Hördur, Thorvaldsdottir Birna, Paland Felice, Steinarsdottir Margrét, Eyfjörd Jórunn E, Bödvarsdottir Sigrídur K

Abstract excerpt

Our previous studies showed an association between monoallelic BRCA2 germline mutations and dysfunctional telomeres in epithelial mammary cell lines and increased risk of breast cancer diagnosis for women with BRCA2 999del5 germline mutation and short telomeres in blood cells. In the current study, we analyzed telomere dysfunction in lymphoid cell lines from five BRCA2 999del5 mutation carriers and three Fanconi...

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Source

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Identifiers

PMID: 35052422
DOI: 10.3390/genes13010083
PMCID: PMC8775325

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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