Dataset Information

MC1R genotype as a predictor of early-onset melanoma, compared with self-reported and physician-measured traditional risk factors: an Australian case-control-family study.

ABSTRACT:

Background

Melanocortin-1 receptor (MC1R) gene variants are very common and are associated with melanoma risk, but their contribution to melanoma risk prediction compared with traditional risk factors is unknown. We aimed to 1) evaluate the separate and incremental contribution of MC1R genotype to prediction of early-onset melanoma, and compare this with the contributions of physician-measured and self-reported traditional risk factors, and 2) develop risk prediction models that include MC1R, and externally validate these models using an independent dataset from a genetically similar melanoma population.

Methods

Using data from an Australian population-based, case-control-family study, we included 413 case and 263 control participants with sequenced MC1R genotype, clinical skin examination and detailed questionnaire. We used unconditional logistic regression to estimate predicted probabilities of melanoma. Results were externally validated using data from a similar study in England.

Results

When added to a base multivariate model containing only demographic factors, MC1R genotype improved the area under the receiver operating characteristic curve (AUC) by 6% (from 0.67 to 0.73; P?ConclusionsAlthough MC1R genotype is strongly associated with skin and hair phenotype, it was a better predictor of early-onset melanoma than was pigmentation characteristics. Physician-measured nevi and previous non-melanoma skin cancer were also strong predictors. There might be modest benefit to measuring MC1R genotype for risk prediction even if information about traditional self-reported or clinically measured pigmentation characteristics and nevi is already available.

SUBMITTER: Cust AE

PROVIDER: S-EPMC3766240 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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Publications

MC1R genotype as a predictor of early-onset melanoma, compared with self-reported and physician-measured traditional risk factors: an Australian case-control-family study.

Cust Anne E AE Goumas Chris C Vuong Kylie K Davies John R JR Barrett Jennifer H JH Holland Elizabeth A EA Schmid Helen H Agha-Hamilton Chantelle C Armstrong Bruce K BK Kefford Richard F RF Aitken Joanne F JF Giles Graham G GG Bishop D D Newton-Bishop Julia A JA Hopper John L JL Mann Graham J GJ Jenkins Mark A MA

BMC cancer 20130904

<h4>Background</h4>Melanocortin-1 receptor (MC1R) gene variants are very common and are associated with melanoma risk, but their contribution to melanoma risk prediction compared with traditional risk factors is unknown. We aimed to 1) evaluate the separate and incremental contribution of MC1R genotype to prediction of early-onset melanoma, and compare this with the contributions of physician-measured and self-reported traditional risk factors, and 2) develop risk prediction models that include ...[more]

PMID: 24134749

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Project description:Fear of pain is experienced in acute and chronic pain populations, as well as in the general population, and it affects numerous aspects of the orofacial pain experience, including pain intensity, pain-related disability, and pain behavior (e.g., avoidance). A related but separate construct-dental fear-is also experienced in the general population, and it influences dental treatment-seeking behavior and oral and systemic health. Minimal work has addressed the role of genetics in the etiologies of fear of pain and dental fear. Limited available data suggest that variants of the melanocortin 1 receptor (MC1R) gene may predict greater levels of dental fear. The MC1R gene also may be etiologically important for fear of pain. This study aimed to replicate the finding that MC1R variant status predicts dental fear and to determine, for the first time, whether MC1R variant status predicts fear of pain. Participants were 817 Caucasian participants (62.5% female; mean ± SD age: 34.7 ± 8.7 y) taking part in a cross-sectional project that identified determinants of oral diseases at the community, family, and individual levels. Participants were genotyped for single-nucleotide polymorphisms on MC1R and completed self-report measures of fear of pain and dental fear. Presence of MC1R variant alleles predicted higher levels of dental fear and fear of pain. Importantly, fear of pain mediated the relation between MC1R variant status and dental fear (B = 1.60, 95% confidence interval: 0.281 to 3.056). MC1R variants may influence orofacial pain perception and, in turn, predispose individuals to develop fears about pain. Such fears influence the pain experience and associated pain behaviors, as well as fears about dental treatment. This study provides support for genetic contributions to the development/maintenance of fear of pain and dental fear, and it offers directions for future research to identify potential targets for intervention in the treatment of fear of pain and dental fear.

Project description:PURPOSE:Accurately tracking health-related quality-of-life after radical prostatectomy is critical to counseling patients and improving technique. Physicians consistently overestimate functional recovery. We measured concordance between surgeon-assessed and patient-reported outcomes and evaluated a novel method to provide feedback to surgeons. MATERIALS AND METHODS:Men treated with radical prostatectomy self-completed the International Index of Erectile Function-6 questionnaire at each postoperative visit. Separately, physicians graded sexual function on a 5-point scale. International Index of Erectile Function -6 score<22 and grade ?3 defined patient-reported and physician-assessed erectile dysfunction (ED), respectively. Feedback on concordance was given to physicians starting in May 2013 with the implementation of the Amplio feedback system. Chi-square tests were used to assess agreement proportions and linear regression to evaluate changes in agreement after implementation. RESULTS:From 2009 to 2015, 3,053 men completed at least 1 postprostatectomy questionnaire and had a concurrent independent physician-reported outcome. Prior to implementation of feedback in 2013, patients and physicians were consistent as to ED 83% of the time; in 10% of cases, physicians overestimated function; in 7% of cases, physicians, but not patients reported ED. Agreement increased after implementation of feedback but this was not statistically significant, likely owing to a ceiling effect. Supporting this hypothesis, increase in agreement postfeedback was greater during late follow-up (?12mo), where baseline agreement was lower compared to earlier follow-up. CONCLUSIONS:Agreement was higher than expected at baseline; implementation of feedback regarding discrepancies between patient-reported and physician-assessed outcomes did not further improve agreement significantly. Our observed high rate of agreement may be partly attributed to our institutional practice of systematically capturing patient-reported outcomes as part of normal clinical care.

Dataset Information

MC1R genotype as a predictor of early-onset melanoma, compared with self-reported and physician-measured traditional risk factors: an Australian case-control-family study.

Background

Methods

Results

Publications

MC1R genotype as a predictor of early-onset melanoma, compared with self-reported and physician-measured traditional risk factors: an Australian case-control-family study.

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