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Fanconi Anaemia, Childhood Cancer and the BRCA Genes

BRCA2 Haploinsufficiency in Telomere Maintenance

BioMedical Center, School of Health Sciences, Faculty of Medicine, University of Iceland, 101 Reykjavík, Iceland
Faculty of Medicine, Eberhard Karls University, 72074 Tübingen, Germany
Department of Genetics and Molecular Medicine, Landspitali the National University Hospital of Iceland, 101 Reykjavík, Iceland
Author to whom correspondence should be addressed.
Academic Editor: Shailja Pathania
Genes 2022, 13(1), 83;
Received: 17 September 2021 / Revised: 13 December 2021 / Accepted: 23 December 2021 / Published: 28 December 2021
(This article belongs to the Special Issue BRCA1 and BRCA2: Genome Instability and Tumorigenesis)
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 Anemia D1 patients by fluorescence in situ hybridization (FISH). Metaphase chromosomes were harvested from ten lymphoid cell lines of different BRCA2 genotype origin and analyzed for telomere loss (TL), multitelomeric signals (MTS), interstitial telomere signals (ITS) and extra chromosomal telomere signals (ECTS). TL, ITS and ECTS were separately found to be significantly increased gradually between the BRCA2+/+, BRCA2+/- and BRCA2-/- lymphoid cell lines. MTS were found to be significantly increased between the BRCA2+/+ and the BRCA2+/- heterozygous (p < 0.0001) and the BRCA2-/- lymphoid cell lines (p < 0.0001) but not between the BRCA2 mutated genotypes. Dysfunctional telomeres were found to be significantly increased in a stepwise manner between the BRCA2 genotypes indicating an effect of BRCA2 haploinsufficiency on telomere maintenance. View Full-Text
Keywords: BRCA2; telomere; haploinsufficiency; Fanconi anemia; chromosomal instability BRCA2; telomere; haploinsufficiency; Fanconi anemia; chromosomal instability
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MDPI and ACS Style

Gunnarsdottir, S.R.; Bjarnason, H.; Thorvaldsdottir, B.; Paland, F.; Steinarsdottir, M.; Eyfjörd, J.E.; Bödvarsdottir, S.K. BRCA2 Haploinsufficiency in Telomere Maintenance. Genes 2022, 13, 83.

AMA Style

Gunnarsdottir SR, Bjarnason H, Thorvaldsdottir B, Paland F, Steinarsdottir M, Eyfjörd JE, Bödvarsdottir SK. BRCA2 Haploinsufficiency in Telomere Maintenance. Genes. 2022; 13(1):83.

Chicago/Turabian Style

Gunnarsdottir, Soffía R., Hördur Bjarnason, Birna Thorvaldsdottir, Felice Paland, Margrét Steinarsdottir, Jórunn E. Eyfjörd, and Sigrídur K. Bödvarsdottir. 2022. "BRCA2 Haploinsufficiency in Telomere Maintenance" Genes 13, no. 1: 83.

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