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

Summary, in 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.

• Author: 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
• Department/s: BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation; Medical oncology; Breastcancer-genetics; Surgery (Lund); EpiHealth: Epidemiology for Health
• Publishing year: 2015
• Language: English
• Pages: 408-408
• Publication/Series: Journal of the National Cancer Institute
• Volume: 107
• Issue: 2
• Links: http://www.ncbi.nlm.nih.gov/pubmed/25505254?dopt=Abstract; http://dx.doi.org/10.1093/jnci/dju408
• Document type: Journal article
• Publisher: Oxford University Press
• Topic: Cancer and Oncology
• Status: Published
• ISBN/ISSN/Other: ISSN: 1460-2105