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CM-Score : A valida...
CM-Score : A validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
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- Potjer, Thomas P. (author)
- Leiden University Medical Centre
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- Helgadottir, Hildur (author)
- Karolinska Institutet,Karolinska University Hospital
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- Leenheer, Mirjam (author)
- Leiden University Medical Centre
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- Van Der Stoep, Nienke (author)
- Leiden University Medical Centre
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- Gruis, Nelleke A. (author)
- Leiden University Medical Centre
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- Höiom, Veronica (author)
- Karolinska Institutet,Karolinska University Hospital
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- Olsson, Håkan (author)
- Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Van Doorn, Remco (author)
- Leiden University Medical Centre
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- Vasen, Hans F.A. (author)
- Leiden University Medical Centre
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- Van Asperen, Christi J. (author)
- Leiden University Medical Centre
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- Dekkers, Olaf M. (author)
- Leiden University Medical Centre
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- Hes, Frederik J. (author)
- Leiden University Medical Centre
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(creator_code:org_t)
- 2018-04-16
- 2018
- English 8 s.
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In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 55:10, s. 661-668
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Abstract
Subject headings
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- Background: Several factors have been reported that influence the probability of a germline CDKN2A mutation in a melanoma family. Our goal was to create a scoring system to estimate this probability, based on a set of clinical features present in the patient and his or her family. Methods: Five clinical features and their association with CDKN2A mutations were investigated in a training cohort of 1227 Dutch melanoma families (13.7% with CDKN2A mutation) using multivariate logistic regression. Predefined features included number of family members with melanoma and with multiple primary melanomas, median age at diagnosis and presence of pancreatic cancer or upper airway cancer in a family member. Based on these five features, a scoring system (CDKN2A Mutation(CM)-Score) was developed and subsequently validated in a combined Swedish and Dutch familial melanoma cohort (n=421 families; 9.0% with CDKN2A mutation). Results: All five features were significantly associated (p<0.05) with a CDKN2A mutation. At a CM-Score of 16 out of 49 possible points, the threshold of 10% mutation probability is approximated (9.9%; 95% CI 9.8 to 10.1). This probability further increased to >90% for families with ≥36 points. A CM-Score under 16 points was associated with a low mutation probability (≤4%). CM-Score performed well in both the training cohort (area under the curve (AUC) 0.89; 95% CI 0.86 to 0.92) and the external validation cohort (AUC 0.94; 95% CI 0.90 to 0.98). Conclusion: We developed a practical scoring system to predict CDKN2A mutation status among melanoma-prone families. We suggest that CDKN2A analysis should be recommended to families with a CM-Score of ≥16 points.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- cancer: dermatological
- cancer: head and neck
- clinical genetics
- genetic epidemiology
- genetic screening/counselling
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Potjer, Thomas P ...
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Helgadottir, Hil ...
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Leenheer, Mirjam
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Van Der Stoep, N ...
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Gruis, Nelleke A ...
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Höiom, Veronica
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show more...
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Olsson, Håkan
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Van Doorn, Remco
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Vasen, Hans F.A.
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Van Asperen, Chr ...
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Dekkers, Olaf M.
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Hes, Frederik J.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Journal of Medic ...
- By the university
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Lund University
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Karolinska Institutet