Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
23774529
TITLE
Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.
ABSTRACT
A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. In a clinical assessment of nevi from 301 volunteers taken from Queensland, we identified six individuals as MITF E318K mutation carriers. The phenotype for 5 of these individuals showed a commonality of fair skin, body freckling that varied over a wide range, and total nevus count between 46 and 430; in addition, all were multiple primary melanoma patients. The predominant dermoscopic signature pattern of nevi was reticular, and the frequency of globular nevi in carriers varied, which does not suggest that the MITF E318K mutation acts to force the continuous growth of nevi. Excised melanocytic lesions were available for four MITF E318K carrier patients and were compared with a matched range of wild-type (WT) melanocytic lesions. The MITF staining pattern showed a predominant nuclear signal in all sections, with no significant difference in the nuclear/cytoplasmic ratio between mutation-positive or -negative samples. A high incidence of amelanotic melanomas was found within the group, with three of the five melanomas from one patient suggesting a genetic interaction between the MITF E318K allele and an MC1R homozygous red hair color (RHC) variant genotype.
DATE PUBLISHED
2014 Jan
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2013/02/03
revised 2013/04/23
accepted 2013/05/20
aheadofprint 2013/06/17
entrez 2013/06/19 06:00
pubmed 2013/06/19 06:00
medline 2014/03/05 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Sturm RA Sturm Richard A RA Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Fox C Fox Carly C The University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.
McClenahan P McClenahan Phil P Dermatology Research Centre, The University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Jagirdar K Jagirdar Kasturee K Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Ibarrola-Villava M Ibarrola-Villava Maider M 1] Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia [2] Department of Haematology and Medical Oncology, Fundacion Investigacion Hospital Clinico-INCLIVA, Valencia, Spain.
Banan P Banan Parastoo P 1] Dermatology Research Centre, The University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Queensland, Australia [2] Department of Dermatology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Abbott NC Abbott Nicola C NC 1] Dermatology Research Centre, The University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Queensland, Australia [2] Department of Dermatology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Ribas G Ribas Gloria G Department of Haematology and Medical Oncology, Fundacion Investigacion Hospital Clinico-INCLIVA, Valencia, Spain.
Gabrielli B Gabrielli Brian B The University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.
Duffy DL Duffy David L DL Queensland Institute of Medical Research, Brisbane, Queensland, Australia.
Soyer HP Soyer H Peter HP 1] Dermatology Research Centre, The University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Queensland, Australia [2] Department of Dermatology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
INVESTIGATORS
JOURNAL
VOLUME: 134
ISSUE: 1
TITLE: The Journal of investigative dermatology
ISOABBREVIATION: J. Invest. Dermatol.
YEAR: 2014
MONTH: Jan
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1523-1747
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: J Invest Dermatol
COUNTRY: United States
ISSNLINKING: 0022-202X
NLMUNIQUEID: 0426720
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
CommentIn J Invest Dermatol. 2014 Jan;134(1):16-7 24352080
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Aged
Aged, 80 and over
Female
Genetic Predisposition to Disease genetics
Hair Color genetics
Humans genetics
Male genetics
Melanoma genetics
Microphthalmia-Associated Transcription Factor genetics
Middle Aged genetics
Nevus genetics
Phenotype genetics
Point Mutation genetics
Polymorphism, Genetic genetics
Skin Neoplasms genetics
Young Adult genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 MITF protein, human
0 Microphthalmia-Associated Transcription Factor
OTHER ID's