Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.

doi:10.1093/jnci/dju408

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Article

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.

Journal of the National Cancer Institute - 1 Feb 2015

Aoude Lauren G, Pritchard Antonia L, Robles-Espinoza Carla Daniela, Wadt Karin, Harland Mark, Choi Jiyeon, Gartside Michael, Quesada Víctor, Johansson Peter, Palmer Jane M, Ramsay Andrew J, Zhang Xijun, Jones Kristine, Symmons Judith, Holland Elizabeth A, Schmid Helen, Bonazzi Vanessa, Woods Susan, Dutton-Regester Ken, Stark Mitchell S, Snowden Helen, van Doorn Remco, Montgomery Grant W, Martin Nicholas G, Keane Thomas M, López-Otín Carlos, Gerdes Anne-Marie, Olsson Håkan, Ingvar Christian, Borg Ake, Gruis Nelleke A, Trent Jeffrey M, Jönsson Göran, Bishop D Timothy, Mann Graham J, Newton-Bishop Julia A, Brown Kevin M, Adams David J, Hayward Nicholas K

Abstract excerpt

BACKGROUND: 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. METHODS: Next-generation sequencing techniques...

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Identifiers

PMID: 25505254
DOI: 10.1093/jnci/dju408
PMCID: PMC4334787

Genes

ACD
POT1
TINF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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