Associated disorders

The FAM175A gene has preliminary evidence supporting a correlation with breast cancer.

Order single gene


Order this gene as a single gene test.

Order a test

Invitae tests that include this gene:

The FAM175A gene encodes the abraxas protein, which binds RAP80 and BRCA1 to target sites of DNA damage that require repair.

FAM175A heterozygote
OMIM: 610089

Clinical condition
There is preliminary evidence suggesting variants in FAM175A may be associated with a predisposition to breast cancer (PMID: 22357538). This is based on a study that identified a FAM175A variant, c.1082G>A, segregating with breast cancer (PMID: 22357538). These preliminary data, however, are currently insufficient to make a clear determination regarding this association. The risk for other cancers may be elevated in individuals with FAM175A variants; however, this evidence is also limited and emerging.

FAM175A is considered a preliminary evidence gene on the Invitae Breast Cancer Panel and the Invitae 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
FAM175A is a tumor suppressor gene playing a role in DNA repair and maintaining genome stability. It is also likely to be part of the BRCA1 signaling that contributes to tumor suppression (PMID: 25066119).

Variants in FAM175A have autosomal dominant inheritance. This means that an individual with a variant has a 50% chance of passing that variant on to their offspring.

Because the evidence regarding FAM175A 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 FAM175A 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 the data regarding FAM175A are currently limited. 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 FAM175A data are likely to become available in the future. Awareness of this variant encourages patients and their providers to inform at-risk family members, to diligently follow condition-specific screening protocols, and to be vigilant in maintaining close and regular contact with their local genetics clinic in anticipation of new information.

Review date: September 2015

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
FAM175A NM_139076.2