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CDKN2A-mutation hos...
CDKN2A-mutation hos en familie med arveligt malignt melanom
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- Djursby, Malene (författare)
- Copenhagen University Hospital
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- Wadt, Karin A W (författare)
- Copenhagen University Hospital
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- Lorentzen, Henrik (författare)
- Aarhus University Hospital
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visa fler...
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- Borg, Ake (författare)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups
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- Gerdes, Anne-Marie (författare)
- Copenhagen University Hospital
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- Krogh, Lotte (författare)
- Odense University Hospital
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visa färre...
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(creator_code:org_t)
- 2014
- 2014
- Danska.
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Ingår i: Ugeskrift for Laeger. - 0041-5782. ; 176:40
- Relaterad länk:
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https://lup.lub.lu.s...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- Cyclin-Dependent Kinase Inhibitor p18/genetics
- Family
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Male
- Melanoma/genetics
- Middle Aged
- Mutation
- Skin Neoplasms/genetics
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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