Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families

被引：13

作者：

de Snoo, Femke A. ^{[1
,2
]}

Hottenga, Jouke-Jan ^{[3
]}

Gillanders, Elizabeth M. ^{[4
]}

Sandkuijl, Loudewijk A. ^{[5
]}

Jones, Mary Pat ^{[4
]}

Bergman, Wilma ^{[6
]}

van der Drift, Clasine ^{[6
]}

van Leeuwen, Inge ^{[6
]}

van Mourik, Lenny ^{[1
,2
]}

ter Huurne, Jeanet A. C. ^{[1
,2
]}

Frants, Rune R. ^{[1
,2
]}

Willemze, Rein ^{[6
]}

Breuning, Martijn H. ^{[1
,2
]}

Trent, Jeffrey M. ^{[7
]}

Gruis, Nelleke A. ^{[3
]}

机构：

[1] Leiden Univ, Med Ctr, Dept Human, NL-2333 ZA Leiden, Netherlands

[2] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2333 ZA Leiden, Netherlands

[3] Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands

[4] NHGRI, Inherited Dis Res Branch, NIH, Dept Hlth & Human Serv, Baltimore, MD USA

[5] Leiden Univ, Med Ctr, Dept Med Stat, Leiden, Netherlands

[6] Leiden Univ, Med Ctr, Dept Dermatol, Leiden, Netherlands

[7] Translat Genom Res Inst, Phoenix, AZ USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2008年 / 16卷 / 09期

关键词：

nevus gene; familial melanoma; linkage;

D O I：

10.1038/ejhg.2008.72

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In most Dutch melanoma families, a founder deletion in the melanoma susceptibility gene CDKN2A (which encodes p16) is present. This founder deletion (p16-Leiden) accounts for a significant proportion of the increased melanoma risk. However, it does not account for the Atypical Nevus (AN) phenotype that segregates in both p16-Leiden carriers and non-carriers. The AN-affected p16-Leiden family members are therefore a unique valuable resource for unraveling the genetic etiology of the AN phenotype, which is considered both a risk factor and a precursor lesion for melanoma. In this study, we performed a genome-wide scan for linkage in four p16-Leiden melanoma pedigrees, classifying family members with five or more AN as affected. The strongest evidence for an atypical nevus susceptibility gene was mapped to chromosome band 7q21.3 (two-point LOD score 2.751), a region containing candidate gene CDK6.

引用

页码：1135 / 1141

页数：7

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