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Sökning: onr:"swepub:oai:lup.lub.lu.se:34f8c307-d33c-45a1-8ab6-422e189d06fe" > CM-Score : A valida...

CM-Score : A validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

Potjer, Thomas P. (författare)
Leiden University Medical Centre
Helgadottir, Hildur (författare)
Karolinska Institutet
Leenheer, Mirjam (författare)
Leiden University Medical Centre
visa fler...
Van Der Stoep, Nienke (författare)
Leiden University Medical Centre
Gruis, Nelleke A. (författare)
Leiden University Medical Centre
Höiom, Veronica (författare)
Karolinska Institutet
Olsson, Håkan (författare)
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
Van Doorn, Remco (författare)
Leiden University Medical Centre
Vasen, Hans F.A. (författare)
Leiden University Medical Centre
Van Asperen, Christi J. (författare)
Leiden University Medical Centre
Dekkers, Olaf M. (författare)
Leiden University Medical Centre
Hes, Frederik J. (författare)
Leiden University Medical Centre
visa färre...
 (creator_code:org_t)
BMJ Publishing Group, 2018
2018
Engelska 8 s.
Ingår i: Journal of Medical Genetics. - : BMJ Publishing Group. - 0022-2593 .- 1468-6244. ; 55:10, s. 661-668
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

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)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine (hsv//eng)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

cancer: dermatological
cancer: head and neck
clinical genetics
genetic epidemiology
genetic screening/counselling

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