CDKN2A-mutation hos en familie med arveligt malignt melanom

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

CDKN2A-mutation hos en familie med arveligt malignt melanom

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

Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

Sammanfattning

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.

Bidragets översatta titel	CDKN2A-mutation in a family with hereditary malignant melanoma
Originalspråk	danska
Tidskrift	Ugeskrift for Laeger
Volym	176
Nummer	40
Status	Published - 2014 sep. 29

Ämnesklassifikation (UKÄ)

Cancer och onkologi

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@article{78697b42080e4306b0d28064eab3ba57,

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. ",

keywords = "Cyclin-Dependent Kinase Inhibitor p18/genetics, Family, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Melanoma/genetics, Middle Aged, Mutation, Skin Neoplasms/genetics",

author = "Malene Djursby and Wadt, \{Karin A W\} and Henrik Lorentzen and Ake Borg and Anne-Marie Gerdes and Lotte Krogh",

year = "2014",

month = sep,

day = "29",

language = "danska",

volume = "176",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "40",

}

TY - JOUR

T1 - CDKN2A-mutation hos en familie med arveligt malignt melanom

AU - Djursby, Malene

AU - Wadt, Karin A W

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.

KW - Cyclin-Dependent Kinase Inhibitor p18/genetics

KW - Family

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Humans

KW - Male

KW - Melanoma/genetics

KW - Middle Aged

KW - Mutation

KW - Skin Neoplasms/genetics

UR - https://www.scopus.com/pages/publications/84925651064

M3 - Artikel i vetenskaplig tidskrift

C2 - 25294512

SN - 0041-5782

VL - 176

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 40

ER -

CDKN2A-mutation hos en familie med arveligt malignt melanom

Sammanfattning

Ämnesklassifikation (UKÄ)

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