Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Factors associated with patient-reported importance of skin clearance among adults with psoriasis and atopic dermatitis

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Drug survival of secukinumab and ixekizumab for moderate-to-severe plaque psoriasis

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Real-world drug survival of ixekizumab for psoriasis

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Hydrochlorothiazide use and risk of Merkel cell carcinoma and malignant adnexal skin tumors: A nationwide case-control study

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. A systematic review and meta-analysis of the regional and age-related differences in atopic dermatitis clinical characteristics

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Exploring the hereditary background of renal cancer in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Subtypes in BRCA-mutated breast cancer

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

    Research output: Contribution to journalJournal articleResearchpeer-review

  • GenoMEL Study Group
View graph of relations

BACKGROUND: Although rare in the general population, highly penetrant germline mutations in CDKN2A are responsible for 5%-40% of melanoma cases reported in melanoma-prone families. We sought to determine whether MELPREDICT was generalizable to a global series of families with melanoma and whether performance improvements can be achieved.

METHODS: In total, 2116 familial melanoma cases were ascertained by the international GenoMEL Consortium. We recapitulated the MELPREDICT model within our data (GenoMELPREDICT) to assess performance improvements by adding phenotypic risk factors and history of pancreatic cancer. We report areas under the curve (AUC) with 95% confidence intervals (CIs) along with net reclassification indices (NRIs) as performance metrics.

RESULTS: MELPREDICT performed well (AUC 0.752, 95% CI 0.730-0.775), and GenoMELPREDICT performance was similar (AUC 0.748, 95% CI 0.726-0.771). Adding a reported history of pancreatic cancer yielded discriminatory improvement (P < .0001) in GenoMELPREDICT (AUC 0.772, 95% CI 0.750-0.793, NRI 0.40). Including phenotypic risk factors did not improve performance.

CONCLUSION: The MELPREDICT model functioned well in a global data set of familial melanoma cases. Adding pancreatic cancer history improved model prediction. GenoMELPREDICT is a simple tool for predicting CDKN2A mutational status among melanoma patients from melanoma-prone families and can aid in directing these patients to receive genetic testing or cancer risk counseling.

Original languageEnglish
JournalJournal of the American Academy of Dermatology
Volume81
Issue number2
Pages (from-to)386-394
Number of pages9
ISSN0190-9622
DOIs
Publication statusPublished - Aug 2019

ID: 58278756