POT1 loss-of-function variants predispose to familial melanoma-Reference-Cited by-同舟云学术

POT1 loss-of-function variants predispose to familial melanoma

Published:2014-03-30 Issue:5 Volume:46 Page:478-481
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Robles-Espinoza Carla Daniela,Harland Mark,Ramsay Andrew J,Aoude Lauren G,Quesada Víctor,Ding Zhihao,Pooley Karen A,Pritchard Antonia L,Tiffen Jessamy C,Petljak Mia,Palmer Jane M,Symmons Judith,Johansson Peter^ORCID,Stark Mitchell S,Gartside Michael G,Snowden Helen,Montgomery Grant W,Martin Nicholas G,Liu Jimmy Z,Choi Jiyeon,Makowski Matthew,Brown Kevin M,Dunning Alison M,Keane Thomas M,López-Otín Carlos,Gruis Nelleke A,Hayward Nicholas K,Bishop D Timothy,Newton-Bishop Julia A,Adams David J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2947.pdf

Reference44 articles.

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2. Horn, S. et al. TERT promoter mutations in familial and sporadic melanoma. Science 339, 959–961 (2013).

3. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J. Natl. Cancer Inst. 91, 1310–1316 (1999).

4. Wiesner, T. et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat. Genet. 43, 1018–1021 (2011).

5. Zuo, L. et al. Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat. Genet. 12, 97–99 (1996).

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