SwePub
Tyck till om SwePub Sök här!
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:lup.lub.lu.se:34f8c307-d33c-45a1-8ab6-422e189d06fe"
 

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

  • Potjer, Thomas P.Leiden University Medical Centre (författare)

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

  • Artikel/kapitelEngelska2018

Förlag, utgivningsår, omfång ...

  • 2018-04-16
  • BMJ,2018
  • 8 s.

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:34f8c307-d33c-45a1-8ab6-422e189d06fe
  • https://lup.lub.lu.se/record/34f8c307-d33c-45a1-8ab6-422e189d06feURI
  • https://doi.org/10.1136/jmedgenet-2017-105205DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:139285253URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • 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 och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Helgadottir, HildurKarolinska Institutet,Karolinska University Hospital (författare)
  • Leenheer, MirjamLeiden University Medical Centre (författare)
  • Van Der Stoep, NienkeLeiden University Medical Centre (författare)
  • Gruis, Nelleke A.Leiden University Medical Centre (författare)
  • Höiom, VeronicaKarolinska Institutet,Karolinska University Hospital (författare)
  • Olsson, HåkanLund 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(Swepub:lu)onk-hol (författare)
  • Van Doorn, RemcoLeiden University Medical Centre (författare)
  • Vasen, Hans F.A.Leiden University Medical Centre (författare)
  • Van Asperen, Christi J.Leiden University Medical Centre (författare)
  • Dekkers, Olaf M.Leiden University Medical Centre (författare)
  • Hes, Frederik J.Leiden University Medical Centre (författare)
  • Karolinska InstitutetLeiden University Medical Centre (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of Medical Genetics: BMJ55:10, s. 661-6680022-25931468-6244

Internetlänk

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy