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Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.

Abstract：

:Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genetic services in probands and their relatives. We describe whether they attend genetic counseling when invited, whether they want a mutation test after being counseled and whether they adhere to recommendations for surveillance. 66 % (95/144) of first-degree relatives to mutation carriers contacted us within the study period. 98 % (126/128) of all relatives who came for genetic counseling decided on genetic testing for their family's mutation, and 93 % (66/71) of all mutation carriers wanted referral to yearly skin examinations. Female relatives had a significantly higher uptake of genetic services compared to males, similar to the findings in families with a BRCA1 mutation. Uptake of genetic services in general in families with a CDKN2A mutation is high. Females seem to have a higher interest in genetic testing than males, regardless of gene mutated.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

Levin T,Mæhle L

doi

10.1007/s10689-016-9939-8

subject

Has Abstract

pub_date

2017-04-01 00:00:00

pages

257-265

issue

2

eissn

1389-9600

issn

1573-7292

pii

10.1007/s10689-016-9939-8

journal_volume

16

pub_type

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