The RINT1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with breast cancer (PMID: 25050558).
Order this gene as a single gene test.
Invitae tests that include this gene:
RINT1 (RAD50-interacting protein 1) has been shown to have diverse cellular functions. RINT1 is involved in several aspects of Golgi apparatus organization and function, including pericentriolar positioning of the Golgi, Golgi assembly, and partitioning of the Golgi apparatus between daughter cells during mitosis (PMID: 17470549). RINT1 has also been shown to play important roles in DNA damage-induced G2/M cell cycle checkpoint control (PMID: 11096100), and regulating telomere length (PMID: 16600870). Loss of RINT1 function due to mutation is therefore expected to contribute to the onset of cancer.
There is preliminary evidence suggesting variants in RINT1 may be associated with a predisposition to breast cancer (PMID: 25050558). This preliminary evidence, however, is currently insufficient to make a clear determination regarding this association. Therefore, Invitae considers RINT1 a “preliminary evidence” gene for breast cancer. 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.
RINT1 is a tumor suppressor gene. It is involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum. It may also play a role in cell-cycle checkpoint control and is essential for telomere length control (PMID: 1747054; UniProt consortium, UniProtKB – Q6NUQ1 (RINT1_HUMAN; http://www.uniprot.org/uniprot/Q6P1J9. Accessed October 2015). If there is a pathogenic variant in this gene that prevents it from normally functioning, there may be an increased risk to develop certain types of cancers.
Variants in RINT1 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 RINT1 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 RINT1 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 RINT1 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 RINT1 data is 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 standard screening protocols, and to be vigilant in maintaining close and regular contact with their local genetics clinic in anticipation of new information.
Date reviewed: September 2015
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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|