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A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

Author:
  • Lauren G. Aoude
  • Karin Wadt
  • Anders Bojesen
  • Dorthe Cruger
  • Åke Borg
  • Jeffrey M. Trent
  • Kevin M. Brown
  • Anne-Marie Gerdes
  • Göran B Jönsson
  • Nicholas K. Hayward
Publishing year: 2013
Language: English
Publication/Series: PLoS ONE
Volume: 8
Issue: 8
Document type: Journal article
Publisher: Public Library of Science

Abstract english

Truncating germline mutations in the tumor suppressor gene BRCA-1 associated protein-1 (BAP1) have been reported in families predisposed to developing a wide range of different cancer types including uveal melanoma and cutaneous melanoma. There has also been an association between amelanotic tumor development and germline BAP1 mutation suggesting a possible phenotypic characteristic of BAP1 mutation carriers. Though there have been many types of cancer associated with germline BAP1 mutation, the full spectrum of disease association is yet to be ascertained. Here we describe a Danish family with predominantly uveal melanoma but also a range of other tumor types including lung, neuroendocrine, stomach, and breast cancer; as well as pigmented skin lesions. Whole-exome sequencing identified a BAP1 splice mutation located at c.581-2A>G, which leads to a premature truncation of BAP1 in an individual with uveal melanoma. This mutation was carried by several other family members with melanoma or various cancers. The finding expands on the growing profile of BAP1 as an important uveal and cutaneous melanoma tumor suppressor gene and implicates its involvement in the development of lung, and stomach cancer.

Keywords

  • Cancer and Oncology

Other

Published
  • ISSN: 1932-6203
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2

90

Project manager

Familial Breast Cancer

90

Professor

Oncology and Pathology, MV

MV 404 C21C2

90