CDKN2A-mutation hos en familie med arveligt malignt melanom

• 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)