CDKN2A-mutation hos en familie med arveligt malignt melanom
(2014) In Ugeskrift for Laeger 176(40).- 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/78697b42-080e-4306-b0d2-8064eab3ba57
- author
- Djursby, Malene ; Wadt, Karin A W ; Lorentzen, Henrik ; Borg, Ake LU ; Gerdes, Anne-Marie and Krogh, Lotte
- organization
- alternative title
- CDKN2A-mutation in a family with hereditary malignant melanoma
- publishing date
- 2014-09-29
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Cyclin-Dependent Kinase Inhibitor p18/genetics, Family, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Melanoma/genetics, Middle Aged, Mutation, Skin Neoplasms/genetics
- in
- Ugeskrift for Laeger
- volume
- 176
- issue
- 40
- publisher
- Den Almindelige Danske Lægeforening
- external identifiers
-
- pmid:25294512
- scopus:84925651064
- ISSN
- 0041-5782
- language
- Danish
- LU publication?
- yes
- id
- 78697b42-080e-4306-b0d2-8064eab3ba57
- date added to LUP
- 2019-05-27 20:26:04
- date last changed
- 2024-04-30 10:34:23
@article{78697b42-080e-4306-b0d2-8064eab3ba57,
abstract = {{<p>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. </p>}},
author = {{Djursby, Malene and Wadt, Karin A W and Lorentzen, Henrik and Borg, Ake and Gerdes, Anne-Marie and Krogh, Lotte}},
issn = {{0041-5782}},
keywords = {{Cyclin-Dependent Kinase Inhibitor p18/genetics; Family; Genetic Predisposition to Disease; Genetic Testing; Humans; Male; Melanoma/genetics; Middle Aged; Mutation; Skin Neoplasms/genetics}},
language = {{dan}},
month = {{09}},
number = {{40}},
publisher = {{Den Almindelige Danske Lægeforening}},
series = {{Ugeskrift for Laeger}},
title = {{CDKN2A-mutation hos en familie med arveligt malignt melanom}},
volume = {{176}},
year = {{2014}},
}