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Ökad kunskap om familjärt melanom och de bakomliggande generna

Helgadottir, Hildur; Nielsen, Kari LU and Höiom, Veronica (2017) In Lakartidningen 2017(19). p.900-903
Abstract

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... (More)

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.

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author
organization
alternative title
Increased knowledge on familial melanoma and the underlying genetics
publishing date
type
Contribution to journal
publication status
published
subject
in
Lakartidningen
volume
2017
issue
19
pages
4 pages
publisher
Sveriges Läkarförbund
external identifiers
  • scopus:85019209761
ISSN
0023-7205
language
Swedish
LU publication?
yes
id
c8cd9dfe-b2ba-4e62-ac08-bd3ecf1ab64a
date added to LUP
2017-06-01 12:47:08
date last changed
2017-06-01 12:47:08
@article{c8cd9dfe-b2ba-4e62-ac08-bd3ecf1ab64a,
  abstract     = {<p>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},
  number       = {19},
  pages        = {900--903},
  publisher    = {Sveriges Läkarförbund},
  series       = {Lakartidningen},
  title        = {Ökad kunskap om familjärt melanom och de bakomliggande generna},
  volume       = {2017},
  year         = {2017},
}