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 StarkHelen 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

Research output: Contribution to journalArticlepeer-review

107 Citations (SciVal)


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.
Original languageEnglish
Pages (from-to)dju408
JournalJournal of the National Cancer Institute
Issue number2
Publication statusPublished - 2015

Subject classification (UKÄ)

  • Cancer and Oncology


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