Upregulation of BRCA1 and 2 protein expression is associated with dysregulation in amino acids profiles in breast cancer

Sep 22, 2026

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Breast cancer has high prevalence in Egypt and contributes strongly to women’s cancer mortality; BRCA1 and BRCA2 tumor suppressor proteins and circulating plasma free amino acids are linked to cancer biology. This study examines altered plasma free amino acids profiles and their association with circulating BRCA1 and BRCA2 levels in Egyptian females diagnosed with breast cancer and in women with a family history of breast cancer. A case-control design is used to support early detection strategies for susceptible individuals.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages10

Reading Time25 min

AccessFree to download

Abstract

Background

Methods and results

Study design and participants

Laboratory measurements

Key findings

Conclusion

Keywords

Introduction

Materials and methods

Patients

Molecular Biology Reports (2024) 51:50 [https://doi.org/10.1007/s1](https://doi.org/10.1007/s1) 1033-023-09028-6 ORIGINAL ARTICLE Upregulation of BRCA1 and 2 protein expression is associated with dysregulation in amino acids profiles in breast cancer Tahia H. Saleem1 · Mohamed A. Rizk2 · Nashwa F. Abdelhafez3 · Ahmed Sabra4 · Eman Radwan1,5 Received: 9 August 2023 / Accepted: 6 November 2023 / Published online: 2 January 2024 © The Author(s) 2023 Abstract Background The prevalence of breast cancer (BC) is high among cancers in Egypt, ranking it the most common cause of cancer mortality in women. BRCA1 and BRCA2 tumor suppressors proteins have a specific relationship with BC. Plasma free amino acids levels (PFAAs) have been reported to exhibit altered profiles among cancer patients. Thus, the present study aims to examine the alteration of the PFAAs profiles and investigate their association with BRCA1 and 2 circulating levels in Egyptian females diagnosed with BC and in females with family history of BC to establish potential early detection strategies for BC. Methods and results This study included 26 BC patients, 22 females with family history of BC (relatives) in addition to 38 healthy females as control group. Quantitative measurement of PFAAs was determined by the ion exchange separation method through high performance liquid chromatography. BRCA1 and BRCA2 concentrations were determined using ELISA. Our results showed PFAAs profiles in BC patients and in females with BC family history with significant upregulation in mean plasma levels of Alanine, Phenylalanine, Glutamate and Cysteine and downregulation of Taurine, Threonine, Serine, Glycine, Valine, Methionine and Histidine levels compared to controls. Also, a significant positive correlation was observed between plasma BRCA1 and Valine levels while a significant negative correlation was observed between BRCA2 and Lysine plasma levels. Conclusion PFAAs profile can potentially be used in early screening for BC patients and for susceptible females. Keywords Breast cancer · BRCA · Amino acids Introduction Breast cancer (BC) is the most common malignancy in females. In 2020, more than 2 million new cases were diagnosed worldwide [1, 2] . The prevalence of breast cancer 􀀍 Eman Radwan[emanradwan@aun.edu.eg](emanradwan@aun.edu.eg) 1 Medical Biochemistry Department, Faculty of Medicine, Assiut University, Assiut, Egypt 2 General Surgery Department, Faculty of Medicine, Assiut University, Assiut, Egypt 3 Anesthesia and Intensive Care Unit, Faculty of Medicine, Assiut University, Assiut, Egypt 4 Medical Biochemistry Department, Faculty of Medicine, Merit University, Sohag, Egypt 5 Biochemistry Department, Sphinx University, New Assiut, Assiut, Egypt (BC) is high among cancers in Egypt, ranking it the most common cause of cancer mortality in women [3, 4] . Several risk factors for BC are identified. Advanced age, female sex and family history are among the most common factors [5] . In addition, mutations of BRCA 1 and 2 genes account for a significant number of BC cases [6] . BRCA1 and BRCA2 proteins are tumor suppressors that play an important role in DNA damage response and repair. BRCA1 is also needed for estrogen receptor (ER) gene transcription [7] . Upregulated expression of BRCA1 and BRCA2 genes was reported in BC and ovarian cancer, furthermore, high BRCA1 gene expression was demonstrated to increase the risk of early distant metastasis in ER +breast cancer patients [8, 9] . Although BC survival rates have significantly improved recently, however, they remain considerably low in Egypt. This may be attributed to deficient screening mechanisms among Egyptian females where most patients are reported to being diagnosed at late stages with subsequent poor outcomes [10–13] . Several efforts have been made recently to develop low cost, rapid, easy-to-use cancer diagnostic methods with minimal invasiveness using peripheral blood or u

FAQs

What is the aim of the study regarding breast cancer and amino acids?

The study aims to assess changes in plasma free amino acids profiles and determine their association with circulating BRCA1 and BRCA2 levels in Egyptian females with breast cancer and in those with a family history.

How were plasma free amino acids and BRCA1/BRCA2 levels measured?

Plasma free amino acids were quantified using ion exchange separation with high performance liquid chromatography. BRCA1 and BRCA2 concentrations were determined using ELISA.

What amino acid patterns were reported in breast cancer patients and those with family history?

Compared with controls, mean plasma levels of alanine, phenylalanine, glutamate and cysteine were significantly upregulated, while taurine, threonine, serine, glycine, valine, methionine and histidine were significantly downregulated.

Sep 22, 2026

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