Genetic Analysis Workshop 7: Summary of the melanoma workshop

Risch, Neil; Sherman, Stephanie L.

doi:10.1159/000133230

Cited by 29 publications

(7 citation statements)

References 6 publications

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“…A consistent conclusion across different analyses was that dominant inheritance was strongly rejected. Cutaneous malignant melanoma appeared to have no simple mendelian inheritance pattern (R ISCH and S HERMAN 1992). It was suggested that SSCM and MMS‐Troll provide a good model for some human cutaneous melanocytic lesions.…”

Section: Introductionmentioning

confidence: 99%

Inheritance of melanocytic lesions and their association with the white colour phenotype in miniature swine

Müller

Wanke

Distl

2001

J Animal Breeding Genetics

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A line of Munich Miniature Swine (MMS) Troll showing a high incidence of spontaneous benign and malignant cutaneous melanocytic lesions has been developed since 1986. The inheritance of cutaneous melanocytic lesions was studied by establishing the F1‐, F2‐ and reciprocal B1‐generations with one melanoma MMS‐Troll boar and four unaffected German Landrace sows as founders. A total of 176 animals were available, 27 in the F1‐, 111 in the F2‐, 19 in the B1‐DL‐, and 14 in the B1‐Troll‐generation. Benign melanocytic lesions were observed in 42% of F1‐, 18% of F2‐, 11% of B1‐DL‐ and 50% of B1‐Troll‐animals. Malignant melanomas developed in 3.6% of F2‐ and 7.1% of B1‐Troll‐animals, although no animal with white coat colour was affected. A mixed major gene model with arbitrary gene action explained the segregation of benign lesions sufficiently well. For melanomas a mixed major gene model required additional dominant acting suppressor loci to obtain a sufficient fit to the data. An influence of SLA haplotypes on the penetrance of melanocytic lesions was not evident. The association analysis of the white phenotypes strongly indicated that the dominant allele I at the I‐locus suppresses malignant melanocytic lesions. A possible explanation is the lack of melanocytes in the skin of dominant white pigs caused by a mutation of the KIT‐gene, which leads to a failure of melanoblast migration and development.

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Section: Introductionmentioning

confidence: 99%

Inheritance of melanocytic lesions and their association with the white colour phenotype in miniature swine

Müller

Wanke

Distl

2001

J Animal Breeding Genetics

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“…Both genetic and environmental factors are involved, because host characteristics related to the response to ultraviolet radiations (UV) increase the risk of developing melanoma 1, 2. Familial melanoma accounts for about 10% of melanoma cases3 and segregation analyses suggest autosomal dominant transmission, with incomplete penetrance 4. Cytogenetic and loss of heterozygosity studies provided support for the potential implication of 9p and 1p loci in predisposition to melanoma and family studies revealed linkage to 9p21 and 1p36 markers 5.…”

mentioning

confidence: 99%

Identification of five chromosomal regions involved in predisposition to melanoma by genome‐wide scan in the MeLiM swine model

Geffrotin

Créchet

Roy

et al. 2004

Intl Journal of Cancer

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In human familial melanoma, 3 risk susceptibility genes are already known, CDKN2A, CDK4 and MC1R. However, various observations suggest that other melanoma susceptibility genes have not yet been identified. To search for new susceptibility loci, we used the MeLiM swine as an animal model of hereditary melanoma to perform a genome scan for linkage to melanoma. Founders of the affected MeLiM stock were crossed with each other and with healthy Duroc pigs, generating MeLiM, F1 and backcross families. As we had previously excluded the MeLiM CDKN2A gene, we paid special attention to CDK4 and MC1R, as well as to other candidates such as BRAF and the SLA complex, mapping them on the swine radiation hybrid map and/or isolating close microsatellite markers to introduce them into the genome scan. The results revealed, first, that swine melanoma was inherited as an autosomal dominant trait with incomplete penetrance, preferably in black animals. Second, 4 chromosomal regions potentially involved in melanoma susceptibility were identified on Sus Scrofa chromosomes (SSC) 1, 2, 7 and 8, respectively, in intervals 44 -103, 1.9 -18, 59 -73 and 47-62 cM. A fifth region close to MC1R was revealed on SSC 6 by analyzing an individual marker located at position 7.5 cM. Lastly, CDK4 and BRAF were unlikely to be melanoma susceptibility genes in the MeLiM swine model. The 3 regions on SSC 1, 6 and 7, respectively, have counterparts on human chromosomes (HSA) 9p, 16q and 6p, harboring melanoma candidate loci. The 2 others, on SSC 2 and 8, have counterparts on HSA 11 and 4, which might therefore be of interest for human studies.

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“…In this study, subjects with an alteration in MC1R, who had dark hair were at increased risk for developing melanoma [21]. In this study, subjects with an alteration in MC1R, who had dark hair were at increased risk for developing melanoma [21].…”

Section: Interaction Between Environment and Phenotypementioning

confidence: 75%

“…Nevus density has been shown to be a genetic trait [21,22] although its expression can be affected by sun exposure [23]. In every study that has measured nevi numbers or dysplastic nevi, there have been strong associations with melanoma.…”

Section: Nevimentioning

confidence: 99%

Issues in the epidemiology of melanoma

Oliveria¹,

Dusza²,

Berwick³

2001

Expert Review of Anticancer Therapy

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Cutaneous melanoma is a significant health problem throughout the developing world. Primary and secondary prevention are discussed. The wavelengths of the ultraviolet radiation spectrum and their association with melanoma are discussed. Although excessive sun exposure during childhood is a critical risk factor, excessive sun exposure during adult years is also important. The major risk factors for melanoma--numerous or atypical moles and a sun-sensitive phenotype--are genetic. Their interaction with sun exposure is currently being examined, as well as the interaction of other genetic factors, such as alterations in the melanocortin receptor and the familial melanoma gene, INK4A. Secondary prevention strategies include self-examination and physician examination. New technologies are being developed to supplement visual examination of suspected lesions. These technologies are discussed in detail and include digital photography, digital dermoscopy, confocal scanning laser microscopy and automated diagnosis systems.

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Genetic Analysis Workshop 7: Summary of the melanoma workshop

Cited by 29 publications

References 6 publications

Inheritance of melanocytic lesions and their association with the white colour phenotype in miniature swine

Inheritance of melanocytic lesions and their association with the white colour phenotype in miniature swine

Identification of five chromosomal regions involved in predisposition to melanoma by genome‐wide scan in the MeLiM swine model

Issues in the epidemiology of melanoma

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