Associated disorders

The XRCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to breast cancer and autosomal recessive Fanconi anemia.

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The XRCC2 gene encodes a Rad51-paralog protein, which plays a role in maintenance of chromosome stability and homologous recombination repair of DNA damage.

XRCC2 heterozygote
OMIM: 600375

Clinical condition
While there is currently no well-established data to associate the XRCC2 gene with a specific disease or condition, there is preliminary evidence suggesting variants in this gene may be associated with a predisposition for breast cancer (PMID: 12023985, 19064565, 22464251, 25452441) and Fanconi anemia (PMID: 22232082). These data, however, are currently insufficient to make a clear determination regarding this association. Therefore, XRCC2 is considered a preliminary evidence gene and is available on the Invitae Breast Cancer Panel and Breast and Gyn Cancers Panel. Preliminary evidence genes are selected from an extensive review of the literature and expert recommendations, but the association between the gene and the specific condition has not been completely established. This uncertainty may be resolved as new information becomes available, and therefore clinicians may continue to order these preliminary-evidence genes.

Gene information
XRCC2 encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination (NCBI. Gene. Gene ID: 7516. http://www.ncbi.nlm.nih.gov/gene/7516. Accessed March 2016).

The preliminary evidence that XRCC2 may be associated with breast cancer suggests dominant inheritance. This means that an individual with such a variant has a 50% chance of passing the variant on to their offspring. The preliminary evidence that XRCC2 may have an association with Fanconi anemia suggests autosomal recessive inheritance. An autosomal recessive condition results when an individual inherits a pathogenic variant from each parent. For there to be a risk to have offspring, both parents would have to have a pathogenic variant; in such a case, the risk of having an affected child is 25%.

Because the evidence regarding XRCC2 and breast cancer risk is limited and preliminary, there are no guidelines or recommendations to suggest alteration to medical management based solely on the presence of a XRCC2 variant. However, an individual’s cancer risk and medical management are not determined by genetic test results alone. Overall cancer risk assessment incorporates additional factors including personal medical history, family history, and any available genetic information that may result in a personalized plan for cancer prevention and surveillance.

It is advantageous to know if a variant is present even though the data regarding XRCC2 are currently preliminary. At-risk relatives can be identified, allowing pursuit of a diagnostic evaluation. In addition, the available information regarding hereditary cancer susceptibility genes is constantly evolving and clinically relevant XRCC2 data is likely to become available in the near future. Awareness of this variant encourages patients and their providers to inform at-risk family members, to consider implementing established screening protocols, and to be vigilant in maintaining close and regular contact with their local genetics clinic in anticipation of new information.

Review Date: March 2016

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
XRCC2 NM_005431.1