The Dutch FAMMM family material: Clinical and genetic data

Bergman, Wilma; Gruis, Nelleke A.; Frants, R.R.

doi:10.1159/000133232

Cited by 24 publications

(10 citation statements)

References 3 publications

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“…It is impossible to predict mutation status on clinical examination, but the presence of dysplastic nevi is an important predictor of risk, regardless of mutation status. Nearly all melanomas in these American families occur in individuals with dysplastic nevi, similar to other melanoma‐prone families in the mid‐Atlantic region of the U.S.,42 in Sweden,41 and perhaps in the Netherlands 43. A somewhat lower percentage of individuals with familial melanomas have been found to have dysplastic nevi in northeast Italy44 and Australia 45…”

Section: Discussionsupporting

confidence: 62%

A natural history of melanomas and dysplastic nevi

Tucker

Fraser

Goldstein

et al. 2002

Cancer

128

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BACKGROUND Few long‐term clinical and histologic data for melanocytic lesions have been available based on the mutation status of families at an increased risk of melanoma. In the current study, the authors describe the clinical and histologic features of dysplastic nevi and melanoma over time in families at an increased risk of melanoma with differing germline mutations in CDKN2A, CDK4, or not yet identified genes. METHODS Thirty‐three families with > 2 living members with invasive melanoma were evaluated clinically and followed prospectively for up to 25 years. All the participants were evaluated by the same study team at the Clinical Center of the National Institutes of Health or in local clinics. After informed consent was obtained, family members (n = 844) were examined and photographed. Blood was obtained for genetic studies; genotyping for CDKN2A and CDK4 was performed. Sequential photographs of melanocytic lesions were taken as part of the clinical evaluations. When melanocytic lesions were removed, the histology was reviewed. Representative photographs and photomicrographs were selected for six classes of lesions and three mutation groups. RESULTS All the families were found to have members with dysplastic nevi and melanoma; 17 had mutations in CDKN2A, 2 had mutations in CDK4, and 14 had no mutations in either gene identified. The majority of dysplastic nevi either remain stable or regress; few change in a manner that should cause concern for melanoma. With careful surveillance, melanomas can be found early. CONCLUSIONS The melanomas and dysplastic nevi that were found to occur in the study families did not appear to vary by the type of mutation identified in the families. Cancer 2002;94:3192–209. © 2002 American Cancer Society. DOI 10.1002/cncr.10605

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Section: Discussionsupporting

confidence: 62%

A natural history of melanomas and dysplastic nevi

Tucker

Fraser

Goldstein

et al. 2002

Cancer

128

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“…They also occur frequently in melanoma-prone families from the Scotland (MacKie, 1982), Netherlands (Bergman et al, 1992), England (Newton- Bishop et al, 1994), Australia (Ang et al, 1998), Sweden (Hashemi et al, 1999), Italy (Landi et al, 1999), Spain (Ruiz et al, 1999), and France (Chaudru et al, 2001). At present, although it was initially hypothesized that dysplastic nevi and melanoma were pleiotropic effects of a single gene (Bale et al, 1986), the majority of data suggest that dysplastic nevi are independent risk factors for melanoma.…”

Section: Number and Type Of Nevimentioning

confidence: 99%

Melanoma etiology: where are we?

Tucker¹,

Goldstein²

2003

Oncogene

241

147

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Melanoma incidence rates are rising rapidly, particularly in older men. Older men are also more likely to have thick melanomas, which confer high mortality and morbidity. The reasons for the rate of increase are not known; increasing sun and UV exposure, however, is the major hypothesized explanation. In the past several years, two major susceptibility genes for melanoma, CDKN2A and CDK4, have been identified, but the two genes together account for a minority of familial melanoma. Other highrisk susceptibility genes are being sought actively. Genetic epidemiologic studies suggest that penetrance of each of the two identified genes is altered by other factors, either genetic or environmental. Epidemiologic studies have also identified other major host factors important in the development of melanoma. In European, North American, and Australian populations, the presence of clinically identified dysplastic nevi confers greatly increased risk of melanoma. A new measure of sun exposure, based on individual residential history, confers substantially increased risk of melanoma. Recent surveys of sun behavior in the US reveal extensive sunburning and use of tanning beds in adolescents and adults. Sun protective behaviors are not as prevalent as in Australia, where population rates of melanoma are stabilizing.

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“…Pedigrees included in the second phase analyses (phase 2, table 1) were identified and collected in Australia, the United States, the United Kingdom, France, Sweden, and The Netherlands, by members of the Melanoma Genetics Consortium. More details about the families can be found elsewhere (Bergman et al 1992;Hussussian et al 1994;Gruis et al 1995;Platz et al 1997;Soufir et al 1998;Hashemi et al 1999;Newton Bishop et al 1999;Bishop et al 2000;Borg et al 2000;Goldstein et al 2000;Harland et al 2000). The goal of the Melanoma Genetics Consortium, established in 1997, is to investigate factors related to the inheritance of an increased risk of melanoma (Kefford et al 1999;Bishop et al 2002).…”

Section: Familiesmentioning

confidence: 99%

Localization of a Novel Melanoma Susceptibility Locus to 1p22

Gillanders

Juo

Holland

et al. 2003

The American Journal of Human Genetics

105

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Over the past 20 years, the incidence of cutaneous malignant melanoma (CMM) has increased dramatically worldwide. A positive family history of the disease is among the most established risk factors for CMM; it is estimated that 10% of CMM cases result from an inherited predisposition. Although mutations in two genes, CDKN2A and CDK4, have been shown to confer an increased risk of CMM, they account for only 20%-25% of families with multiple cases of CMM. Therefore, to localize additional loci involved in melanoma susceptibility, we have performed a genomewide scan for linkage in 49 Australian pedigrees containing at least three CMM cases, in which CDKN2A and CDK4 involvement has been excluded. The highest two-point parametric LOD score (1.82; recombination fraction [theta] 0.2) was obtained at D1S2726, which maps to the short arm of chromosome 1 (1p22). A parametric LOD score of 4.65 (theta=0) and a nonparametric LOD score of 4.19 were found at D1S2779 in nine families selected for early age at onset. Additional typing yielded seven adjacent markers with LOD scores >3 in this subset, with the highest parametric LOD score, 4.95 (theta=0) (nonparametric LOD score 5.37), at D1S2776. Analysis of 33 additional multiplex families with CMM from several continents provided further evidence for linkage to the 1p22 region, again strongest in families with the earliest mean age at diagnosis. A nonparametric ordered sequential analysis was used, based on the average age at diagnosis in each family. The highest LOD score, 6.43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22.

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The Dutch FAMMM family material: Clinical and genetic data

Cited by 24 publications

References 3 publications

A natural history of melanomas and dysplastic nevi

A natural history of melanomas and dysplastic nevi

Melanoma etiology: where are we?

Localization of a Novel Melanoma Susceptibility Locus to 1p22

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