POT1 loss-of-function variants predispose to familial melanoma
POT1 loss-of-function variants predispose to familial melanoma
About this item
Full title
Author / Creator
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 , 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 and Adams, David J
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
David Adams, Julia Newton-Bishop, Timothy Bishop, Nicholas Hayward and colleagues identify loss-of-function variants in
POT1
in several families with early onset multiple primary melanoma. They further show that these variants disrupt telomere binding by POT1 and are associated with increased telomere length.
Deleterious germline variants...
Alternative Titles
Full title
POT1 loss-of-function variants predispose to familial melanoma
Authors, Artists and Contributors
Author / Creator
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
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4266105
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4266105
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2947
