CDKN2A-mutation hos en familie med arveligt malignt melanom
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CDKN2A-mutation hos en familie med arveligt malignt melanom. / Djursby, Malene; Wadt, Karin; Lorentzen, Henrik; Borg, Ake; Gerdes, Anne-Marie; Krogh, Lotte.
I: Ugeskrift for Laeger, Bind 176, Nr. 40, 29.09.2014, s. 2-3.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - CDKN2A-mutation hos en familie med arveligt malignt melanom
AU - Djursby, Malene
AU - Wadt, Karin
AU - Lorentzen, Henrik
AU - Borg, Ake
AU - Gerdes, Anne-Marie
AU - Krogh, Lotte
PY - 2014/9/29
Y1 - 2014/9/29
N2 - 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.
AB - 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.
M3 - Tidsskriftartikel
C2 - 25294512
VL - 176
SP - 2
EP - 3
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 40
ER -
ID: 137379405