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Updated: Feb 12, 2026
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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
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SYK expression level distinguishes control from BRCA1-mutated lymphocytes.
Tamar Zahavi1,2, Amir Sonnenblick1,3, Yael Shimshon2
1Sharett Institute of Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Cancer Management and Research
|April 6, 2018
Summary
Hereditary breast and ovarian cancers are often linked to BRCA1/2 mutations. This study found higher SYK gene expression in healthy BRCA1 mutation carriers, suggesting SYK as a potential diagnostic marker for BRCA1-associated breast cancer.
Area of Science:
- Genomics
- Cancer Genetics
- Molecular Biology
Background:
- Hereditary breast and ovarian cancers are frequently associated with germline mutations in BRCA1 and BRCA2 genes.
- Identifying these mutations allows for risk-reduction strategies, including surveillance and prophylactic surgeries.
Purpose of the Study:
- To identify gene expression differences between healthy individuals with BRCA1/2 mutations and controls.
- To discover candidate genes for detecting functional BRCA1/2 mutations, especially those in regulatory regions missed by sequencing.
Main Methods:
- RNA sequencing (RNA-Seq) was performed on lymphocytes from 24 healthy BRCA1/2 mutation carriers and 26 controls.
- Spleen tyrosine kinase (SYK) mRNA levels were validated using real-time quantitative polymerase chain reaction.
Main Results:
- Significant gene expression differences were observed between BRCA1/2 mutation carriers and controls.
- The SYK gene showed significantly higher expression in healthy BRCA1 heterozygote carriers compared to controls.
- SYK and BRCA1 expression levels were not correlated in cancerous breast tissues, unlike in normal tissues.
Conclusions:
- The study suggests SYK as a potential biomarker for improved diagnosis, treatment, and prevention of BRCA1 mutation-associated breast cancer.
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