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Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count.
Melanoma Res 1993; 3(4):271-7MR

Abstract

Familial atypical multiple mole-melanoma (FAMMM) syndrome is characterized by the familial occurrence of malignant melanoma of the skin in combination with multiple atypical precursor naevi. In the present study we performed linkage analysis in seven Dutch FAMMM families to define the relationship between the ultimate phenotype melanoma and the postulated precursors, atypical (dysplastic) naevi. Various models were defined, varying from melanoma only to various combinations of melanoma and atypical naevi, reflecting the FAMMM phenotype. Using 124 microsatellite markers spread across all autosomes, hints for linkage were obtained between several chromosome 9p markers and a melanoma locus (D9S171; odds for linkage, 275:1). In a model including melanoma and a florid manifestation of atypical naevi a considerably higher lod score was obtained with D9S171 (odds for linkage, 4365:1); models including milder manifestations yielded less support. We conclude that, also in the Dutch FAMMM families, a melanoma gene is located on the short arm of chromosome 9 and that multiple atypical naevi, at least in certain cases, seems to be a component of the FAMMM phenotype.

Authors+Show Affiliations

MGC-Department of Human Genetics, Leiden University, 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
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8219760

Citation

Gruis, N A., et al. "Linkage Analysis in Dutch Familial Atypical Multiple Mole-melanoma (FAMMM) Syndrome Families. Effect of Naevus Count." Melanoma Research, vol. 3, no. 4, 1993, pp. 271-7.
Gruis NA, Sandkuijl LA, Weber JL, et al. Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count. Melanoma Res. 1993;3(4):271-7.
Gruis, N. A., Sandkuijl, L. A., Weber, J. L., van der Zee, A., Borgstein, A. M., Bergman, W., & Frants, R. R. (1993). Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count. Melanoma Research, 3(4), pp. 271-7.
Gruis NA, et al. Linkage Analysis in Dutch Familial Atypical Multiple Mole-melanoma (FAMMM) Syndrome Families. Effect of Naevus Count. Melanoma Res. 1993;3(4):271-7. PubMed PMID: 8219760.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count. AU - Gruis,N A, AU - Sandkuijl,L A, AU - Weber,J L, AU - van der Zee,A, AU - Borgstein,A M, AU - Bergman,W, AU - Frants,R R, PY - 1993/8/1/pubmed PY - 1993/8/1/medline PY - 1993/8/1/entrez SP - 271 EP - 7 JF - Melanoma research JO - Melanoma Res. VL - 3 IS - 4 N2 - Familial atypical multiple mole-melanoma (FAMMM) syndrome is characterized by the familial occurrence of malignant melanoma of the skin in combination with multiple atypical precursor naevi. In the present study we performed linkage analysis in seven Dutch FAMMM families to define the relationship between the ultimate phenotype melanoma and the postulated precursors, atypical (dysplastic) naevi. Various models were defined, varying from melanoma only to various combinations of melanoma and atypical naevi, reflecting the FAMMM phenotype. Using 124 microsatellite markers spread across all autosomes, hints for linkage were obtained between several chromosome 9p markers and a melanoma locus (D9S171; odds for linkage, 275:1). In a model including melanoma and a florid manifestation of atypical naevi a considerably higher lod score was obtained with D9S171 (odds for linkage, 4365:1); models including milder manifestations yielded less support. We conclude that, also in the Dutch FAMMM families, a melanoma gene is located on the short arm of chromosome 9 and that multiple atypical naevi, at least in certain cases, seems to be a component of the FAMMM phenotype. SN - 0960-8931 UR - https://www.unboundmedicine.com/medline/citation/8219760/Linkage_analysis_in_Dutch_familial_atypical_multiple_mole_melanoma__FAMMM__syndrome_families__Effect_of_naevus_count_ L2 - http://www.diseaseinfosearch.org/result/9670 DB - PRIME DP - Unbound Medicine ER -