Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers

Sep 22, 2026

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Breast cancer prevalence makes biomarkers important, especially for homologous recombination deficiency (HRD) often driven by BRCA1/2 mutations. This open-access study evaluates leukocyte telomere length (LTL) as a potential biomarker for BRCA1 mutations and HRD. LTL was measured by multiplex monochrome real-time qPCR in four cohorts defined by cancer status and BRCA1 genotype, with BRCA1 assessed using DNA sequencing.

LanguageEnglish

CategoryResearch & Report

FormatPDF

Pages11

Reading Time28 min

AccessFree to download

Introduction

Study rationale and background

Methodology

Telomere length measurement

BRCA1 genotyping

Results

Age and LTL correlations

LTL differences by BRCA1 carrier status

Conclusion

Association with BRCA1 mutations

Need for further validation

Uttarilli et al. Discover Oncology (2026) 17:214 [https://doi.org/10.1007/s12672-025-04007-8](https://doi.org/10.1007/s12672-025-04007-8) Discover Oncology RESEARCH Open Access Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers Anusha Uttarilli 1, Katerina Balounova 1,2, Kristyna Tomasova1,3, Petr Hanak1, Katerina Saskova4, Pavel Vodicka3,5, Ludmila Vodickova3,5, Kari Hemminki3,6, Jan Lubinski7 and Michal Kroupa 1,3,5* *Correspondence: Michal Kroupa [michal.kroupa@iem.cas.cz](michal.kroupa@iem.cas.cz) Full list of author information is available at the end of the article Abstract Introduction Breast cancer is the most prevalent malignancy among women worldwide. A significant portion of patients possess homologous recombination deficiency (HRD), often caused by BRCA1/2 mutations, which may sensitize tumors to PARP inhibitors and platinum-based chemotherapy through synthetic lethality. Since mutations in BRCA genes have been previously suggested in association with impaired biology of telomeres, in the present study we investigated leukocyte telomere length (LTL) to evaluate its potential utility as a biomarker for BRCA1 mutations and HRD. Methodology LTL was measured using multiplex monochrome real-time qPCR in four groups: breast cancer patients with pathogenic hereditary BRCA1 mutations (n = 99), age-matched non-cancerous controls carrying the same BRCA1 mutations (n = 99), breast cancer patients with wild-type BRCA1 (n = 105), and age-matched noncancerous controls with wild-type BRCA1 (n = 107) . BRCA1 mutations were tested by the DNA sequencing approach. Results A significant negative correlation between age and LTL was observed across all studied groups, except in breast cancer patients carrying pathogenic hereditary BRCA1 mutations. Interestingly, after adjusting for age, BRCA1 mutation carriers had shorter LTL compared to non-carriers, regardless of the presence of cancer (P = 0 . 024) . Conclusion LTL shortening is associated with BRCA1 mutations, regardless of cancer status. Further validation studies are needed. Keywords Breast cancer, BRCA1 mutations, Telomere length 1 Introduction Breast cancer is one of the most commonly diagnosed cancers worldwide, with approximately 1 in 8 women expected to be diagnosed during their lifetime. It remains the leading cause of cancer-related deaths among females [1]. Individuals carrying germline pathogenic BRCA1/2 variants have a significantly higher risk of developing breast and other cancers throughout their lifetime. While the prevalence of BRCA1/2 mutations in the general population is about 0.3%, BRCA carriers face a 60% lifetime risk of © The Author(s) 2026. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creativecommons.org/l](http://creativecommons.org/l)icenses/by-nc-nd/4.0/. Uttarilli et al. Discover Oncology (2026) 17:214 Page 2 of 11 developing breast cancer and are five times more likely to develop contralateral breast cancer compared to those with BRCA wi

FAQs

What biomarker did the study evaluate for BRCA1 mutations and HRD?

The study evaluated leukocyte telomere length (LTL) as a potential biomarker for BRCA1 mutations and HRD.

How was LTL measured in the different study groups?

LTL was measured using multiplex monochrome real-time qPCR in four groups defined by breast cancer status and BRCA1 genotype.

What was the main finding regarding LTL in BRCA1 mutation carriers?

After adjusting for age, BRCA1 mutation carriers had shorter LTL than non-carriers regardless of cancer presence.

Sep 22, 2026

Upload by Patrick