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

Femke A. de Snoo; Jouke Jan Hottenga; Elizabeth M. Gillanders; Loudewijk A. Sandkuijl; Mary Pat Jones; Wilma Bergman; Clasine van der Drift; Inge van Leeuwen; Lenny van Mourik; Jeanet A.C. ter Huurne; Rune R. Frants; Rein Willemze; Martijn H. Breuning; Jeffrey M. Trent; Nelleke A. Gruis

doi:10.1038/ejhg.2008.72

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

Femke A. de Snoo^*
, Jouke Jan Hottenga
, Elizabeth M. Gillanders
, Loudewijk A. Sandkuijl
, Mary Pat Jones
, Wilma Bergman
, Clasine van der Drift
, Inge van Leeuwen
, Lenny van Mourik
, Jeanet A.C. ter Huurne
, Rune R. Frants
, Rein Willemze
, Martijn H. Breuning
, Jeffrey M. Trent
, Nelleke A. Gruis

^*Corresponding author for this work

Leiden University
Vrije Universiteit Amsterdam
National Institutes of Health
Translational Genomics Research Institute

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1135-1141
Number of pages	7
Journal	European Journal of Human Genetics
Volume	16
Issue number	9
DOIs	https://doi.org/10.1038/ejhg.2008.72
Publication status	Published - 2008
Externally published	Yes

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10.1038/ejhg.2008.72

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de Snoo, F. A., Hottenga, J. J., Gillanders, E. M., Sandkuijl, L. A., Jones, M. P., Bergman, W., van der Drift, C., van Leeuwen, I., van Mourik, L., ter Huurne, J. A. C., Frants, R. R., Willemze, R., Breuning, M. H., Trent, J. M., & Gruis, N. A. (2008). Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families. European Journal of Human Genetics, 16(9), 1135-1141. https://doi.org/10.1038/ejhg.2008.72

@article{bd80c79006c040ae8c25f9d625522b9f,

title = "Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families",

abstract = "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.",

author = "\{de Snoo\}, \{Femke A.\} and Hottenga, \{Jouke Jan\} and Gillanders, \{Elizabeth M.\} and Sandkuijl, \{Loudewijk A.\} and Jones, \{Mary Pat\} and Wilma Bergman and \{van der Drift\}, Clasine and \{van Leeuwen\}, Inge and \{van Mourik\}, Lenny and \{ter Huurne\}, \{Jeanet A.C.\} and Frants, \{Rune R.\} and Rein Willemze and Breuning, \{Martijn H.\} and Trent, \{Jeffrey M.\} and Gruis, \{Nelleke A.\}",

year = "2008",

doi = "10.1038/ejhg.2008.72",

language = "English",

volume = "16",

pages = "1135--1141",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "9",

}

de Snoo, FA, Hottenga, JJ, Gillanders, EM, Sandkuijl, LA, Jones, MP, Bergman, W, van der Drift, C, van Leeuwen, I, van Mourik, L, ter Huurne, JAC, Frants, RR, Willemze, R, Breuning, MH, Trent, JM & Gruis, NA 2008, 'Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families', European Journal of Human Genetics, vol. 16, no. 9, pp. 1135-1141. https://doi.org/10.1038/ejhg.2008.72

TY - JOUR

T1 - Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families

AU - de Snoo, Femke A.

AU - Hottenga, Jouke Jan

AU - Gillanders, Elizabeth M.

AU - Sandkuijl, Loudewijk A.

AU - Jones, Mary Pat

AU - Bergman, Wilma

AU - van der Drift, Clasine

AU - van Leeuwen, Inge

AU - van Mourik, Lenny

AU - ter Huurne, Jeanet A.C.

AU - Frants, Rune R.

AU - Willemze, Rein

AU - Breuning, Martijn H.

AU - Trent, Jeffrey M.

AU - Gruis, Nelleke A.

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/50149120124

U2 - 10.1038/ejhg.2008.72

DO - 10.1038/ejhg.2008.72

M3 - Article

C2 - 18398432

AN - SCOPUS:50149120124

SN - 1018-4813

VL - 16

SP - 1135

EP - 1141

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 9

ER -

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

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