A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Nature

Volumn 480, Issue 7375, 2011, Pages 99-103

  Yokoyama, Satoru ^a   Woods, Susan L ^b   Boyle, Glen M ^b   Aoude, Lauren G ^b   MacGregor, Stuart ^b   Zismann, Victoria ^c   Gartside, Michael ^b   Cust, Anne E ^d   Haq, Rizwan ^a   Harland, Mark ^e   Taylor, John C ^e   Duffy, David L ^b   Holohan, Kelly ^b   Dutton Regester, Ken ^b   Palmer, Jane M ^b   Bonazzi, Vanessa ^b   Stark, Mitchell S ^b   Symmons, Judith ^b   Law, Matthew H ^b   Schmidt, Christopher ^b   Lanagan, Cathy ^b   O'Connor, Linda ^b   Holland, Elizabeth A ^f   Schmid, Helen ^f   Maskiell, Judith A ^g   Jetann, Jodie ^h   Ferguson, Megan ^h   Jenkins, Mark A ^g   Kefford, Richard F ^f   Giles, Graham G ⁱ   Armstrong, Bruce K ^d   Aitken, Joanne F ^h   Hopper, John L ^g   Whiteman, David C ^b   Pharoah, Paul D ^j   Easton, Douglas F ^j   Dunning, Alison M ^j   Newton Bishop, Julia A ^e   Montgomery, Grant W ^b   Martin, Nicholas G ^b   Mann, Graham J ^f   Bishop, D Timothy ^e   Tsao, Hensin ^a   Trent, Jeffrey M ^c   Fisher, David E ^a   Hayward, Nicholas K ^b   Brown, Kevin M ^c,k   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF SYDNEY   (Australia)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f UNIVERSITY OF SYDNEY   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h VIERTEL CENTRE FOR RESEARCH IN CANCER CONTROL   (Australia)

ⁱ CANCER EPIDEMIOLOGY CENTRE   (Australia)

^j UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^k NATIONAL CANCER INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MELANIN; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR;

CANCER; GENETIC ANALYSIS; GENOME; MITOCHONDRIAL DNA; MUTATION; PROTEIN; SKIN DISORDER;

ARTICLE; CANCER RISK; CASE CONTROL STUDY; CELL PROLIFERATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; DNA SEQUENCE; EYE COLOR; FAMILIAL DISEASE; FAMILY HISTORY; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HAIR COLOR; HUMAN; HUMAN CELL; IN VITRO STUDY; LINKAGE ANALYSIS; MELANOMA; NEVUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN COLOR; SKIN PIGMENTATION; SUMOYLATION;

ADULT; AGED; AGED, 80 AND OVER; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MELANOMA; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MIDDLE AGED; MUTATION; SUMOYLATION; YOUNG ADULT;

AUSTRALIA; UNITED KINGDOM;

NEMOPHILA; PSEUDOMUGILIDAE;

EID: 82555187007     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature10630     Document Type: Article

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