RAD51, S. Cerevisiae, Homolog of

Alternative Names

RAD51
RAD51, S. Cerevisiae, Homolog of, A
RAD51A
Recombination Protein A
RECA
RECA, E. Coli, Homolog of

Associated Diseases

Breast Cancer

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OMIM Number

179617

Gene Map Locus

15q15.1

Description

The highly conserved RAD51 gene encodes a protein involved in DNA repair through the Homologous Recombination (HR) pathway. By interacting with the proteins XRCC2, XRCC3, BRCA1, and BRCA2, the recombinase “RAD51” plays an essential role in repairing double strand breaks in DNA and maintaining chromosomal stability. This protein is also responsible for regulating mitochondrial DNA copy number under conditions of oxidative stress.

As a partner of BRCA1 and BRCA2, RAD51 is believed to affect susceptibility to breast cancer. It is also associated with Mirror Movements 2 (MRMV2), a congenital disorder characterized by involuntary movements of one side of the body that mirror the intentional movements of the other side. The disorder usually affects the hands and fingers of small children and gradually disappears within the first decade of life. It is not yet fully understood how mutations in RAD51 result in this disease.

Molecular Genetics

The 37 kb long RAD51 gene is located on chromosome 15 at position 15q15.1. Its coding sequence consists of 13 exons. The protein encoded by the RAD51 gene is made up of 339 amino acids and has a molecular mass of almost 37 kDa. Alternative splicing results in multiple transcript variants that encode four different isoforms of the protein. The RAD51 gene is found to be overexpressed in the testis and thymus. Expression is also seen in the small intestine, placenta, colon, pancreas and ovary and to a lesser degree, in the breast. Four different RAD51 mutations that result in an impaired or missing protein, have been associated with MRMV2.

Epidemiology in the Arab World

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Other Reports

Jordan

Al-Zoubi et al. (2016) analyzed two RAD51 SNPs and their association with breast cancer risk. The frequency of the SNPs T172T and G135C (located in the 5’ UTR promoter region of RAD51) were studied in 73 Jordanian sporadic breast cancer affected individuals. While G135C failed to show a link with the disease, it was found that T172T showed a statistically significant association [p<0.0001, OR=3.717 (2.283-6.052)] with the risk of breast cancer. About 63% of the Jordanian cases carried the T127T genotype compared to only 15% of the controls. It was also found that on dividing the groups into T127T or G135C carriers against the other variants (G172T, G172G or G135G), the T172T or G135C carriers showed a significant association with breast cancer risk (p=0.0001).

Saudi Arabia

Tulbah et al. (2016) studied the association between RAD51 SNPs and the risk of breast cancer in Saudi Arabian women. A total of 96 breast cancer patients along with their age- and sex-matched controls were selected for the study. Three RAD51 SNPs (rs1801320, rs1801321 and rs2619681) were studied by genotyping and statistical analysis. While rs1801320 (G135C) was not found to be associated with breast cancer risk, two other SNPs showed strong associations. The GG genotype and the G allele of the SNP rs1801321 (G172T) were related to an increased risk of cancer (p<0.0001), while the T allele was found to be protective against the disease (p<0.0001). The SNP rs2619681 (C>T) also showed a strong association with breast cancer risk, with the CC genotype and the C allele being more frequent in cancer patients (p=0.012) and the T allele conferring protection against the disease. Grouped patients based on their estrogen receptor (ER) and progesterone receptor (PR) status revealed that the CC genotype of rs1801321 was more frequent in patients that were ER- than in ER+ patients. Also, the C allele of rs2619681 was more frequent in ER+ and PR+ patients than those that were ER- and PR-.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAD51

Contributors

Sayeeda Hana: 16.10.2016

Edit History

Sami Bizzari: 07.12.2016