X-Ray Repair, Complementing Defective, in Chinese Hamster, 3

Alternative Names

XRCC3
X-Ray Repair Cross-Complementing Protein 3

Length

17,896 bases

No. of Exons

No. of isoforms

Protein Name

DNA repair protein XRCC3

Molecular Mass

37,850 Da

Amino Acid Count

346

Genomic Location

chr14:103,697,609-103,715,504

Gene Map Locus

14q32.33

Description

The XRCC3 gene encodes a DNA repair protein that repairs double strand breaks in DNA and maintains chromosomal stability as a component of the homologous recombination (HR) pathway. A member of the RecA/Rad51-related protein family, this protein is also responsible for regulating mitochondrial DNA copy number under conditions of oxidative stress and recombinase assembly during meiosis and telomere maintenance.

Mutations in this gene can result in a failure to initiate homologous recombination as well as the aberrant processing of HR intermediates. Both of these processes lead to genomic instability and may contribute to carcinogenesis. The XRCC3 gene has thus been associated with an increased risk of breast cancer as well as cutaneous malignant melanoma 6, a neoplasm of melanocytes that usually occurs in the skin.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_005432.4:c.260C>T	Lebanon	chr14:103707149		Uncertain Significance	Breast Cancer	NG_011516.1:g.13338C>T; NM_005432.4:c.260C>T; NP_005423.1:p.Pro87Leu	749386482
NM_005432.4:c.722C>T	Lebanon	chr14:103699416	Risk factor	Uncertain Significance	Breast Cancer	NG_011516.1:g.21071C>T; NM_005432.4:c.722C>T; NP_005423.1:p.Thr241Met	861539	8944

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Other Reports

Saudi Arabia

Ali et al. (2016) undertook a study to determine whether the XRCC3 polymorphisms rs1799794, rs1799796 rs861539 were associated with the risk of breast cancer in Saudi women. A total of 143 breast cancer affected females and 145 healthy controls were recruited to the study. The study found a significant association between the SNP rs1799794 and breast cancer [AA+AG, p<0.0001, OR=28.1 (3.76-21.12)] where the mutant G allele was protective against the disease. A similarly significant association was found between this SNP and triple negative cancer [p=0.022, OR=11.09 (0.65-8.05)]. SNPs rs1799796 and rs861539 were not found to be significantly associated with the disease. However, upon testing subgroups of patients, it was found that the A allele of the rs1799796 SNP is more frequent in patients with an early age of onset (<48 years), in patients with a grade III tumor compared to grade II, and in patients that were ER- and HER2- compared to ER+ and HER2+. The SNP rs1799796 was thus suggested to be a marker of disease severity.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=XRCC3

Contributors

Asha Deepthi: 06.09.2020
Sayeeda Hana: 10.10.2016

Edit History

Asha Deepthi: 06.09.2020
Sami Bizzari: 07.12.2016

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