Literature DB >> 25294512

[CDKN2A-mutation in a family with hereditary malignant melanoma].

Malene Djursby, Karin Wadt1, Henrik Lorentzen, Ake Borg, Anne-Marie Gerdes, Lotte Krogh.   

Abstract

Malignant melanoma (MM) is a frequent form of cancer with increasing incidence. 6-10% of patients with MM report a family history of MM, and in most populations 2% of unselected cases of MM carry a CDKN2A mutation. tvWe present a family with 24 cases of MM in nine persons from several generations, caused by a previously undescribed germ-line intronic mutation in CDKN2A. Through genetic counselling and genetic testing high-risk persons in the family are located and offered regular screening for MM.

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Year:  2014        PMID: 25294512

Source DB:  PubMed          Journal:  Ugeskr Laeger        ISSN: 0041-5782


  2 in total

1.  Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?

Authors:  Sara Di Lorenzo; Daniele Fanale; Bartolo Corradino; Valentina Caló; Gaetana Rinaldi; Viviana Bazan; Antonio Giordano; Adriana Cordova; Antonio Russo
Journal:  Cancer Biol Ther       Date:  2016       Impact factor: 4.742

2.  Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Authors:  Karin A W Wadt; Lauren G Aoude; Lotte Krogh; Lone Sunde; Anders Bojesen; Karen Grønskov; Nine Wartacz; Jakob Ek; Morten Tolstrup-Andersen; Mette Klarskov-Andersen; Åke Borg; Steffen Heegaard; Jens F Kiilgaard; Thomas V O Hansen; Kerenaftali Klein; Göran Jönsson; Krzysztof T Drzewiecki; Morten Dunø; Nicholas K Hayward; Anne-Marie Gerdes
Journal:  PLoS One       Date:  2015-03-24       Impact factor: 3.240

  2 in total

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