CDKN2A-mutation hos en familie med arveligt malignt melanom

Malene Djursby; Karin Wadt; Henrik Lorentzen; Ake Borg; Anne-Marie Gerdes; Lotte Krogh

CDKN2A-mutation hos en familie med arveligt malignt melanom

Translated title of the contribution: CDKN2A-mutation in a family with hereditary malignant melanoma.

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

Department of Clinical Medicine

2 Citations (Scopus)

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.

Translated title of the contribution	CDKN2A-mutation in a family with hereditary malignant melanoma.
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	176
Issue number	40
Pages (from-to)	2-3
Number of pages	2
ISSN	0041-5782
Publication status	Published - 29 Sept 2014

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title = "CDKN2A-mutation hos en familie med arveligt malignt melanom",

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.",

author = "Malene Djursby and Karin Wadt and Henrik Lorentzen and Ake Borg and Anne-Marie Gerdes and Lotte Krogh",

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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

SN - 0041-5782

VL - 176

SP - 2

EP - 3

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 40

ER -

CDKN2A-mutation hos en familie med arveligt malignt melanom

Abstract

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