A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers
(2013) In PLoS ONE 8(8).- Abstract
- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4063422
- author
- Aoude, Lauren G. ; Wadt, Karin ; Bojesen, Anders ; Cruger, Dorthe ; Borg, Åke LU ; Trent, Jeffrey M. ; Brown, Kevin M. ; Gerdes, Anne-Marie ; Jönsson, Göran B LU and Hayward, Nicholas K.
- organization
- publishing date
- 2013
- type
- Contribution to journal
- publication status
- published
- subject
- in
- PLoS ONE
- volume
- 8
- issue
- 8
- article number
- e72144
- publisher
- Public Library of Science (PLoS)
- external identifiers
-
- wos:000323425700139
- scopus:84890378293
- pmid:23977234
- ISSN
- 1932-6203
- DOI
- 10.1371/journal.pone.0072144
- language
- English
- LU publication?
- yes
- id
- 68985abe-210c-4b4d-8768-5f7f3cf185e9 (old id 4063422)
- date added to LUP
- 2016-04-01 13:05:06
- date last changed
- 2022-03-13 22:01:25
@article{68985abe-210c-4b4d-8768-5f7f3cf185e9,
abstract = {{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.}},
author = {{Aoude, Lauren G. and Wadt, Karin and Bojesen, Anders and Cruger, Dorthe and Borg, Åke and Trent, Jeffrey M. and Brown, Kevin M. and Gerdes, Anne-Marie and Jönsson, Göran B and Hayward, Nicholas K.}},
issn = {{1932-6203}},
language = {{eng}},
number = {{8}},
publisher = {{Public Library of Science (PLoS)}},
series = {{PLoS ONE}},
title = {{A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers}},
url = {{https://lup.lub.lu.se/search/files/3148778/4864845.pdf}},
doi = {{10.1371/journal.pone.0072144}},
volume = {{8}},
year = {{2013}},
}