|
|
| PMID |
|
|
| TITLE |
|
| Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study. |
|
| ABSTRACT |
|
|
|
| Germline variants in the melanocortin 1 receptor gene (MC1R) and the p16 gene (CDKN2A) are associated with an increased risk of cutaneous melanoma. The frequency of these germline variants was examined in a population-based, incident series of 62 ocular melanoma cases and ethnicity-matched population controls. In both cases and controls, 59% of individuals carried at least one MC1R variant and there were no significant differences in the frequency of any of the five most common variants of MC1R. We also found no significant differences between cases and controls in the frequency of any of the four most common variants of CDKN2A, and no melanoma case carried a deleterious germline CDKN2A mutation. Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma. |
|
| DATE PUBLISHED |
|
|
| HISTORY |
|
| PUBSTATUS |
PUBSTATUSDATE |
| pubmed |
2003/07/29 05:00 |
| medline |
2003/12/03 05:00 |
| entrez |
2003/07/29 05:00 |
|
| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Vajdic C |
|
Vajdic |
C |
C |
|
National Centre for HIV Epidemiology and Clinical Research, Darlinghurst, NSW, Australia. |
| Kricker A |
|
Kricker |
A |
A |
|
|
| Duffy DL |
|
Duffy |
D L |
DL |
|
|
| Aitken JF |
|
Aitken |
J F |
JF |
|
|
| Stark M |
|
Stark |
M |
M |
|
|
| ter Huurne JA |
|
ter Huurne |
J A C |
JA |
|
|
| Martin NG |
|
Martin |
N G |
NG |
|
|
| Armstrong BK |
|
Armstrong |
B K |
BK |
|
|
| Hayward NK |
|
Hayward |
N K |
NK |
|
|
|
| INVESTIGATORS |
|
|
| JOURNAL |
|
| VOLUME: 13 |
| ISSUE: 4 |
| TITLE: Melanoma research |
| ISOABBREVIATION: Melanoma Res. |
| YEAR: 2003 |
| MONTH: Aug |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Print |
| ISSN: 0960-8931 |
| ISSNTYPE: Print |
|
| MEDLINE JOURNAL |
|
| MEDLINETA: Melanoma Res |
| COUNTRY: England |
| ISSNLINKING: 0960-8931 |
| NLMUNIQUEID: 9109623 |
|
| PUBLICATION TYPE |
|
| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, Non-U.S. Gov't |
| Research Support, U.S. Gov't, P.H.S. |
|
| COMMENTS AND CORRECTIONS |
|
|
| GRANTS |
|
| GRANTID |
AGENCY |
COUNTRY |
| CA88363 |
NCI NIH HHS |
United States |
|
| GENERAL NOTE |
|
|
| KEYWORDS |
|
|
| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Aged |
|
| Case-Control Studies |
|
| Chi-Square Distribution |
|
| DNA, Neoplasm |
genetics |
| Eye Neoplasms |
genetics |
| Genes, p16 |
genetics |
| Genetics, Population |
genetics |
| Germ-Line Mutation |
genetics |
| Humans |
genetics |
| Melanoma |
genetics |
| Middle Aged |
genetics |
| Polymorphism, Genetic |
genetics |
| Prevalence |
genetics |
| Receptor, Melanocortin, Type 1 |
genetics |
|
| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
|
| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 0 |
DNA, Neoplasm |
| 0 |
Receptor, Melanocortin, Type 1 |
|
| OTHER ID's |
|
|
|
