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Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma.

  • Lauren G Aoude
  • Antonia L Pritchard
  • Carla Daniela Robles-Espinoza
  • Karin Wadt
  • Mark Harland
  • Jiyeon Choi
  • Michael Gartside
  • Víctor Quesada
  • Peter Johansson
  • Jane M Palmer
  • Andrew J Ramsay
  • Xijun Zhang
  • Kristine Jones
  • Judith Symmons
  • Elizabeth A Holland
  • Helen Schmid
  • Vanessa Bonazzi
  • Susan Woods
  • Ken Dutton-Regester
  • Mitchell S Stark
  • Helen Snowden
  • Remco van Doorn
  • Grant W Montgomery
  • Nicholas G Martin
  • Thomas M Keane
  • Carlos López-Otín
  • Anne-Marie Gerdes
  • Håkan Olsson
  • Christian Ingvar
  • Åke Borg
  • Nelleke A Gruis
  • Jeffrey M Trent
  • Göran B Jönsson
  • D Timothy Bishop
  • Graham J Mann
  • Julia A Newton-Bishop
  • Kevin M Brown
  • David J Adams
  • Nicholas K Hayward
Publishing year: 2015
Language: English
Pages: 408-408
Publication/Series: Journal of the National Cancer Institute
Volume: 107
Issue: 2
Document type: Journal article
Publisher: Oxford University Press

Abstract english

The shelterin complex protects chromosomal ends by regulating how the telomerase complex interacts with telomeres. Following the recent finding in familial melanoma of inactivating germline mutations in POT1, encoding a member of the shelterin complex, we searched for mutations in the other five components of the shelterin complex in melanoma families.


  • Cancer and Oncology


  • ISSN: 1460-2105
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


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2