Tags

Type your tag names separated by a space and hit enter

Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.
Am J Hum Genet 2001; 69(4):774-9AJ

Abstract

Germline mutations of the cell-cycle regulator p16 (also called "CDKN2A") in kindreds with melanoma implicate this gene in susceptibility to malignant melanoma. Most families with familial atypical multiple-mole melanoma (FAMMM) who are registered at the Leiden dermatology clinic share the same p16-inactivating deletion (p16-Leiden). Incomplete penetrance and variable clinical expression suggest risk modification by other genetic and/or environmental factors. Variants of the melanocortin-1 receptor (MC1R) gene have been shown to be associated with red hair, fair skin, and melanoma in humans. Carriers of the p16-Leiden deletion in Dutch families with FAMMM show an increased risk of melanoma when they also carry MC1R variant alleles. The R151C variant is overrepresented in patients with melanoma who are from families with the p16-Leiden mutation. Although some of the effect of the R151C variant on melanoma risk may be attributable to its effect on skin type, our analyses indicate that the R151C variant contributes an increased melanoma risk even after statistical correction for its effect on skin type. These findings suggest that the R151C variant may be involved in melanoma tumorigenesis in a dual manner, both as a determinant of fair skin and as a component in an independent additional pathway.

Authors+Show Affiliations

Department of Human Genetics, Leiden University Medical Center, 2333 AL Leiden, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

11500806

Citation

van der Velden, P A., et al. "Melanocortin-1 Receptor Variant R151C Modifies Melanoma Risk in Dutch Families With Melanoma." American Journal of Human Genetics, vol. 69, no. 4, 2001, pp. 774-9.
van der Velden PA, Sandkuijl LA, Bergman W, et al. Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Hum Genet. 2001;69(4):774-9.
van der Velden, P. A., Sandkuijl, L. A., Bergman, W., Pavel, S., van Mourik, L., Frants, R. R., & Gruis, N. A. (2001). Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. American Journal of Human Genetics, 69(4), pp. 774-9.
van der Velden PA, et al. Melanocortin-1 Receptor Variant R151C Modifies Melanoma Risk in Dutch Families With Melanoma. Am J Hum Genet. 2001;69(4):774-9. PubMed PMID: 11500806.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. AU - van der Velden,P A, AU - Sandkuijl,L A, AU - Bergman,W, AU - Pavel,S, AU - van Mourik,L, AU - Frants,R R, AU - Gruis,N A, Y1 - 2001/08/07/ PY - 2001/03/12/received PY - 2001/07/19/accepted PY - 2001/8/14/pubmed PY - 2001/10/19/medline PY - 2001/8/14/entrez SP - 774 EP - 9 JF - American journal of human genetics JO - Am. J. Hum. Genet. VL - 69 IS - 4 N2 - Germline mutations of the cell-cycle regulator p16 (also called "CDKN2A") in kindreds with melanoma implicate this gene in susceptibility to malignant melanoma. Most families with familial atypical multiple-mole melanoma (FAMMM) who are registered at the Leiden dermatology clinic share the same p16-inactivating deletion (p16-Leiden). Incomplete penetrance and variable clinical expression suggest risk modification by other genetic and/or environmental factors. Variants of the melanocortin-1 receptor (MC1R) gene have been shown to be associated with red hair, fair skin, and melanoma in humans. Carriers of the p16-Leiden deletion in Dutch families with FAMMM show an increased risk of melanoma when they also carry MC1R variant alleles. The R151C variant is overrepresented in patients with melanoma who are from families with the p16-Leiden mutation. Although some of the effect of the R151C variant on melanoma risk may be attributable to its effect on skin type, our analyses indicate that the R151C variant contributes an increased melanoma risk even after statistical correction for its effect on skin type. These findings suggest that the R151C variant may be involved in melanoma tumorigenesis in a dual manner, both as a determinant of fair skin and as a component in an independent additional pathway. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/11500806/Melanocortin_1_receptor_variant_R151C_modifies_melanoma_risk_in_Dutch_families_with_melanoma_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61133-1 DB - PRIME DP - Unbound Medicine ER -