Associated disorders

The MC1R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cutaneous malignant melanoma (MedGen UID: 416516).

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The MC1R gene encodes melanocortin 1 receptor, which is located on melanocytes and plays a role in normal pigmentation. The MC1R gene is also active in cells related to immune and inflammatory response.

MC1R heterozygotes
MedGen UID: 416516

Clinical condition
Common polymorphisms in the MC1R gene are associated with variation in skin, hair, and eye color and some variants are associated with UV induced genomic instability (Genetics Home Reference. MC1R. Accessed March 2016). MC1R currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cutaneous malignant melanoma (PMID: 26488006, 19464594, 26337759, 18366057, 26938746, 18484624, 25790105, 21128237, 16280005, 26850723). Therefore, MC1R is considered a “preliminary-evidence” gene and is available on Invitae’s Melanoma 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
The MC1R gene encodes the melanocortin 1 receptor. This receptor is primarily located on the surface of melanocytes. Melanocytes produce melanin and play an important role in normal pigmentation of skin, hair, and eyes. Melanin is also found in the retina (National Library of Medicine. Genetics Home Reference. MC1R. Accessed March 2016). Non-pigmentary functions have been described including regulation of inflammatory and oxidative responses, melanocyte proliferation, and UV induced DNA damage repair (PMID: 26850723).

The preliminary evidence associating MC1R variants with cutaneous melanoma suggests dominant inheritance. This means that an individual with such a variant has a 50% chance of passing the variant on to their offspring.

Because the evidence regarding MC1R and autosomal dominant cutaneous melanoma is limited and preliminary, there are currently no guidelines or recommendations to suggest alteration to medical management based solely on the presence of an MC1R 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 as well as available genetic information that may result in a personalized plan for cancer prevention and surveillance.

Even though data regarding MC1R is limited, knowing if a pathogenic variant is present is advantageous. At-risk relatives can be identified, enabling pursuit of a diagnostic evaluation. Further, the available information regarding hereditary cancer susceptibility genes is constantly evolving and more clinically relevant data regarding MC1R are likely to become available in the near future. Awareness of this cancer predisposition encourages patients and their providers to inform at-risk family members, to consider implementing proposed 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
MC1R NM_002386.3