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A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

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Wadt, Karin ; Choi, Jiyeon ; Chung, Joon-Yong ; Kiilgaard, Jens Folke ; Heegaard, Steffen ; Drzewiecki, Krzysztof T ; Trent, Jeffrey M ; Hewitt, Stephen M ; Hayward, Nicholas K ; Gerdes, Anne-Marie ; Brown, Kevin M. / A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. I: Pigment Cell & Melanoma Research. 2012 ; Bind 25, Nr. 6. s. 815-8.

Bibtex

@article{8220d0a59b7f49c19c92dfcc3060bd3e,
title = "A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma",
abstract = "Inactivating germ line BRCA1-associated protein-1 (BAP1) mutations have recently been reported in families with uveal or cutaneous malignant melanoma (UMM, CMM), mesothelioma, and meningioma. Although apparently predisposing to a wide range of tumors, the exact tumor spectrum associated with germ line BAP1 mutations has yet to be established. Here, we report a novel germ line BAP1 splice mutation, c.1708C>G (p.Leu570fs*40), in a multiple-case Danish UMM family with a spectrum of other tumors. Whole-exome sequencing identified an apparent missense mutation of BAP1 in UMM, CMM, as well as paraganglioma, breast cancer, and suspected mesothelioma cases in the family. Bioinformatic analysis and splicing assays demonstrated that this mutation creates a strong cryptic splice donor, resulting in aberrant splicing and a truncating frameshift of the BAP1 transcript. Somatic loss of the wild-type allele was also confirmed in the UMM and paraganglioma tumors. Our findings further support BAP1 as a melanoma susceptibility gene and extend the potential predisposition spectrum to paraganglioma.",
author = "Karin Wadt and Jiyeon Choi and Joon-Yong Chung and Kiilgaard, {Jens Folke} and Steffen Heegaard and Drzewiecki, {Krzysztof T} and Trent, {Jeffrey M} and Hewitt, {Stephen M} and Hayward, {Nicholas K} and Anne-Marie Gerdes and Brown, {Kevin M}",
note = "2012 John Wiley & Sons A/S. Published 2012. This article is a US Government work and is in the public domain in the USA.",
year = "2012",
doi = "10.1111/pcmr.12006",
language = "English",
volume = "25",
pages = "815--8",
journal = "Pigment Cell and Melanoma Research",
issn = "1755-1471",
publisher = "Wiley-Blackwell Munksgaard",
number = "6",

}

RIS

TY - JOUR

T1 - A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

AU - Wadt, Karin

AU - Choi, Jiyeon

AU - Chung, Joon-Yong

AU - Kiilgaard, Jens Folke

AU - Heegaard, Steffen

AU - Drzewiecki, Krzysztof T

AU - Trent, Jeffrey M

AU - Hewitt, Stephen M

AU - Hayward, Nicholas K

AU - Gerdes, Anne-Marie

AU - Brown, Kevin M

N1 - 2012 John Wiley & Sons A/S. Published 2012. This article is a US Government work and is in the public domain in the USA.

PY - 2012

Y1 - 2012

N2 - Inactivating germ line BRCA1-associated protein-1 (BAP1) mutations have recently been reported in families with uveal or cutaneous malignant melanoma (UMM, CMM), mesothelioma, and meningioma. Although apparently predisposing to a wide range of tumors, the exact tumor spectrum associated with germ line BAP1 mutations has yet to be established. Here, we report a novel germ line BAP1 splice mutation, c.1708C>G (p.Leu570fs*40), in a multiple-case Danish UMM family with a spectrum of other tumors. Whole-exome sequencing identified an apparent missense mutation of BAP1 in UMM, CMM, as well as paraganglioma, breast cancer, and suspected mesothelioma cases in the family. Bioinformatic analysis and splicing assays demonstrated that this mutation creates a strong cryptic splice donor, resulting in aberrant splicing and a truncating frameshift of the BAP1 transcript. Somatic loss of the wild-type allele was also confirmed in the UMM and paraganglioma tumors. Our findings further support BAP1 as a melanoma susceptibility gene and extend the potential predisposition spectrum to paraganglioma.

AB - Inactivating germ line BRCA1-associated protein-1 (BAP1) mutations have recently been reported in families with uveal or cutaneous malignant melanoma (UMM, CMM), mesothelioma, and meningioma. Although apparently predisposing to a wide range of tumors, the exact tumor spectrum associated with germ line BAP1 mutations has yet to be established. Here, we report a novel germ line BAP1 splice mutation, c.1708C>G (p.Leu570fs*40), in a multiple-case Danish UMM family with a spectrum of other tumors. Whole-exome sequencing identified an apparent missense mutation of BAP1 in UMM, CMM, as well as paraganglioma, breast cancer, and suspected mesothelioma cases in the family. Bioinformatic analysis and splicing assays demonstrated that this mutation creates a strong cryptic splice donor, resulting in aberrant splicing and a truncating frameshift of the BAP1 transcript. Somatic loss of the wild-type allele was also confirmed in the UMM and paraganglioma tumors. Our findings further support BAP1 as a melanoma susceptibility gene and extend the potential predisposition spectrum to paraganglioma.

U2 - 10.1111/pcmr.12006

DO - 10.1111/pcmr.12006

M3 - Journal article

VL - 25

SP - 815

EP - 818

JO - Pigment Cell and Melanoma Research

JF - Pigment Cell and Melanoma Research

SN - 1755-1471

IS - 6

ER -

ID: 36774123