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

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15 Scopus citations

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 (US)
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
State	Published - 2008
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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

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

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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.}",

note = "Funding Information: We are indebted to the family members for their past and recent participation in our research. FAS is supported by the Dutch Cancer Society (RUL 99-1932); NAG is a recipient of an Aspasia fellowship of the Netherlands organization for Scientific Research.",

year = "2008",

doi = "10.1038/ejhg.2008.72",

language = "English (US)",

volume = "16",

pages = "1135--1141",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

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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.

N1 - Funding Information: We are indebted to the family members for their past and recent participation in our research. FAS is supported by the Dutch Cancer Society (RUL 99-1932); NAG is a recipient of an Aspasia fellowship of the Netherlands organization for Scientific Research.

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.

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

Abstract

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