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Sökning: onr:"swepub:oai:lup.lub.lu.se:68985abe-210c-4b4d-8768-5f7f3cf185e9" > A BAP1 Mutation in ...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003467naa a2200433 4500
001oai:lup.lub.lu.se:68985abe-210c-4b4d-8768-5f7f3cf185e9
003SwePub
008160401s2013 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/40634222 URI
0247 a https://doi.org/10.1371/journal.pone.00721442 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Aoude, Lauren G.4 aut
2451 0a A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers
264 c 2013-08-19
264 1b Public Library of Science (PLoS),c 2013
338 a electronic2 rdacarrier
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
7001 a Wadt, Karin4 aut
7001 a Bojesen, Anders4 aut
7001 a Cruger, Dorthe4 aut
7001 a Borg, Åkeu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-abo
7001 a Trent, Jeffrey M.4 aut
7001 a Brown, Kevin M.4 aut
7001 a Gerdes, Anne-Marie4 aut
7001 a Jönsson, Göran Bu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-gjo
7001 a Hayward, Nicholas K.4 aut
7102 a Bröstcancer-genetikb Sektion I4 org
7730 t PLoS ONEd : Public Library of Science (PLoS)g 8:8q 8:8x 1932-6203
8564 u https://portal.research.lu.se/files/3148778/4864845.pdfx primaryx freey FULLTEXT
8564 u http://dx.doi.org/10.1371/journal.pone.0072144x freey FULLTEXT
8564 u https://doi.org/10.1371/journal.pone.0072144
8564 8u https://lup.lub.lu.se/record/4063422
8564 8u https://doi.org/10.1371/journal.pone.0072144

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