Tags

Type your tag names separated by a space and hit enter

Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
Eur J Hum Genet 2008; 16(9):1135-41EJ

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.

Authors+Show Affiliations

Departments of Human & Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. desnoo@lumc.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18398432

Citation

de Snoo, Femke A., et al. "Genome-wide Linkage Scan for Atypical Nevi in p16-Leiden Melanoma Families." European Journal of Human Genetics : EJHG, vol. 16, no. 9, 2008, pp. 1135-41.
de Snoo FA, Hottenga JJ, Gillanders EM, et al. Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families. Eur J Hum Genet. 2008;16(9):1135-41.
de Snoo, F. A., Hottenga, J. J., Gillanders, E. M., Sandkuijl, L. A., Jones, M. P., Bergman, W., ... Gruis, N. A. (2008). Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families. European Journal of Human Genetics : EJHG, 16(9), pp. 1135-41. doi:10.1038/ejhg.2008.72.
de Snoo FA, et al. Genome-wide Linkage Scan for Atypical Nevi in p16-Leiden Melanoma Families. Eur J Hum Genet. 2008;16(9):1135-41. PubMed PMID: 18398432.
* Article titles in AMA citation format should be in sentence-case
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 - Huurne,Jeanet A C Ter, AU - Frants,Rune R, AU - Willemze,Rein, AU - Breuning,Martijn H, AU - Trent,Jeffrey M, AU - Gruis,Nelleke A, Y1 - 2008/04/09/ PY - 2008/4/10/pubmed PY - 2008/10/22/medline PY - 2008/4/10/entrez SP - 1135 EP - 41 JF - European journal of human genetics : EJHG JO - Eur. J. Hum. Genet. VL - 16 IS - 9 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. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/18398432/Genome_wide_linkage_scan_for_atypical_nevi_in_p16_Leiden_melanoma_families_ L2 - http://dx.doi.org/10.1038/ejhg.2008.72 DB - PRIME DP - Unbound Medicine ER -