Ökad kunskap om familjärt melanom och de bakomliggande generna

Helgadottir, HildurKarolinska Institute,Karolinska University Hospital (författare)

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.

Nielsen, KariLund University,Lunds universitet,Lunds Melanomstudiegrupp,Forskargrupper vid Lunds universitet,Lund Melanoma Study Group,Lund University Research Groups,Helsingborg Hospital,Dermatologi och venereologi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Dermatology and Venereology (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-kni (författare)
Höiom, VeronicaKarolinska Institute,Karolinska University Hospital (författare)
Karolinska InstituteKarolinska University Hospital (creator_code:org_t)

Av författaren/redakt...: Helgadottir, Hil ...; Nielsen, Kari; Höiom, Veronica

Om ämnet

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Cancer och onkol ...

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