Ökad kunskap om familjärt melanom och de bakomliggande generna
Helgadottir, Hildur ; Nielsen, Kari LU
and Höiom, Veronica
(2017)
In Läkartidningen
114.
- Abstract
Increased knowledge on familial melanoma and the underlying genetics Approximately 5-10 % of all melanoma patients have close relatives with melanoma. 5-20% of melanoma families have germline mutations in the CDKN2A gene. Swedish CDKN2A mutation carriers have a young median age of onset of melanoma, increased risks of multiple primary melanoma and of tobacco-associated cancers in respiratory and upper digestive tissues, and also worse survival compared to non-carriers. In up to 80% of melanoma families no high risk melanoma associated germline mutations are found. In a few (non-Swedish) melanoma families, mutations in other genes have been found, including CDK4, TERT, POT1, ACD and TERF2IP. In some families with multiple cases of uveal... (More)
Increased knowledge on familial melanoma and the underlying genetics Approximately 5-10 % of all melanoma patients have close relatives with melanoma. 5-20% of melanoma families have germline mutations in the CDKN2A gene. Swedish CDKN2A mutation carriers have a young median age of onset of melanoma, increased risks of multiple primary melanoma and of tobacco-associated cancers in respiratory and upper digestive tissues, and also worse survival compared to non-carriers. In up to 80% of melanoma families no high risk melanoma associated germline mutations are found. In a few (non-Swedish) melanoma families, mutations in other genes have been found, including CDK4, TERT, POT1, ACD and TERF2IP. In some families with multiple cases of uveal and cutaneous melanoma (including a few Swedish families), mutations in the BAP1 gene have been found. In genes that regulate cellular pigmentation pathways, including MC1R, ASIP, IRF4, TYR, TYRP1 and OCA, there are different common variants that determine complexion traits, and those variants are also associated with different risks of melanoma. Members belonging to identified melanoma families require close follow-up with dermatologic exams. Individuals with known mutations in tumor suppressor genes such as CDKN2A and BAP1 require, in addition, follow up for other cancers.
(Less)
- author
- Helgadottir, Hildur
; Nielsen, Kari
LU
and Höiom, Veronica
- organization
- publishing date
- 2017-05-09
- type
- Contribution to specialist publication or newspaper
- publication status
- published
- subject
- in
- Läkartidningen
- volume
- 114
- pages
- 4 pages
- publisher
- Swedish Medical Association
- external identifiers
-
- scopus:85031663602
- pmid:28485764
- ISSN
- 0023-7205
- language
- Swedish
- LU publication?
- yes
- id
- 340bfee9-23f4-4298-8323-d25303155ea9
- alternative location
- http://lakartidningen.se/Klinik-och-vetenskap/Temaartikel/2017/05/Okad-kunskap-om-familjart-melanom-och-de-bakomliggande-generna/
- date added to LUP
- 2019-05-23 09:18:19
- date last changed
- 2024-03-03 11:40:34
@misc{340bfee9-23f4-4298-8323-d25303155ea9,
abstract = {{<p>Increased knowledge on familial melanoma and the underlying genetics Approximately 5-10 % of all melanoma patients have close relatives with melanoma. 5-20% of melanoma families have germline mutations in the CDKN2A gene. Swedish CDKN2A mutation carriers have a young median age of onset of melanoma, increased risks of multiple primary melanoma and of tobacco-associated cancers in respiratory and upper digestive tissues, and also worse survival compared to non-carriers. In up to 80% of melanoma families no high risk melanoma associated germline mutations are found. In a few (non-Swedish) melanoma families, mutations in other genes have been found, including CDK4, TERT, POT1, ACD and TERF2IP. In some families with multiple cases of uveal and cutaneous melanoma (including a few Swedish families), mutations in the BAP1 gene have been found. In genes that regulate cellular pigmentation pathways, including MC1R, ASIP, IRF4, TYR, TYRP1 and OCA, there are different common variants that determine complexion traits, and those variants are also associated with different risks of melanoma. Members belonging to identified melanoma families require close follow-up with dermatologic exams. Individuals with known mutations in tumor suppressor genes such as CDKN2A and BAP1 require, in addition, follow up for other cancers.</p>}},
author = {{Helgadottir, Hildur and Nielsen, Kari and Höiom, Veronica}},
issn = {{0023-7205}},
language = {{swe}},
month = {{05}},
publisher = {{Swedish Medical Association}},
series = {{Läkartidningen}},
title = {{Ökad kunskap om familjärt melanom och de bakomliggande generna}},
url = {{http://lakartidningen.se/Klinik-och-vetenskap/Temaartikel/2017/05/Okad-kunskap-om-familjart-melanom-och-de-bakomliggande-generna/}},
volume = {{114}},
year = {{2017}},
}