Familial Melanoma: a Complex Disorder Leading to Controversy on DNA Testing

Overview

Journal Fam Cancer

Publisher Springer

Specialty Oncology

Date 2003 Oct 24

PMID 14574160

Citations 8

Authors

Femke A de Snoo

Wilma Bergman

Nelleke A Gruis

Affiliations

Soon will be listed here.

Abstract

The initial enthusiasm generated by the discovery of the first susceptibility gene found for melanoma has slightly dampened over recent years. For the majority of melanoma families the underlying gene defect is still not known, so the search for other melanoma genes is continuing. Also, the increased risk of melanoma does not seem to be restricted to mutation carriers, but is present even in non-mutation carriers in melanoma families. The underlying defect of familial melanoma is less straightforward than previously thought; both environmental and hereditary risk modifiers intermingle in a perplexing way. This makes familial melanoma a complex disorder which deserves the close attention of both clinicians and researchers, especially as the opinion on gene testing in familial melanoma has not yet achieved consensus. On the one hand, there is a rising demand from families for genetic testing; on the other hand, there is the clinicians' concern about the value of such testing.

Citing Articles

Clinical applications of melanoma genetics.

Gabree M, Patel D, Rodgers L Curr Treat Options Oncol. 2014; 15(2):336-50.

PMID: 24652319 DOI: 10.1007/s11864-014-0282-8.

Management of melanoma families.

Bergman W, Gruis N Cancers (Basel). 2013; 2(2):549-66.

PMID: 24281082 PMC: 3835091. DOI: 10.3390/cancers2020549.

Guidelines for biomarker testing in metastatic melanoma: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.

Martin-Algarra S, Fernandez-Figueras M, Lopez-Martin J, Santos-Briz A, Arance A, Lozano M Clin Transl Oncol. 2013; 16(4):362-73.

PMID: 24129426 DOI: 10.1007/s12094-013-1090-5.

Melanoma genetic testing, counseling, and adherence to skin cancer prevention and detection behaviors.

Glanz K, Volpicelli K, Kanetsky P, Ming M, Schuchter L, Jepson C Cancer Epidemiol Biomarkers Prev. 2013; 22(4):607-14.

PMID: 23392000 PMC: 3617083. DOI: 10.1158/1055-9965.EPI-12-1174.

Interpretation of melanoma risk feedback in first-degree relatives of melanoma patients.

Hay J, Baguer C, Li Y, Orlow I, Berwick M J Cancer Epidemiol. 2012; 2012:374842.

PMID: 22888347 PMC: 3410311. DOI: 10.1155/2012/374842.

References

Soufir N, Bressac-de Paillerets B, Desjardins L, Levy C, Bombled J, Gorin I . Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes. Br J Cancer. 2000; 82(4):818-22. PMC: 2374387. DOI: 10.1054/bjoc.1999.1005. View

Bergman W, Watson P, de Jong J, Lynch H, Fusaro R . Systemic cancer and the FAMMM syndrome. Br J Cancer. 1990; 61(6):932-6. PMC: 1971693. DOI: 10.1038/bjc.1990.209. View

Gillanders E, Juo S, Holland E, Jones M, Nancarrow D, Freas-Lutz D . Localization of a novel melanoma susceptibility locus to 1p22. Am J Hum Genet. 2003; 73(2):301-13. PMC: 1180369. DOI: 10.1086/377140. View

Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A . High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst. 2000; 92(15):1260-6. DOI: 10.1093/jnci/92.15.1260. View

Duisterhof M, Trijsburg R, Niermeijer M, Roos R, Tibben A . Psychological studies in Huntington's disease: making up the balance. J Med Genet. 2002; 38(12):852-61. PMC: 1734776. DOI: 10.1136/jmg.38.12.852. View

van Haeringen A, Bergman W, Nelen M, Hendrikse I, Wijnen J, Khan P . Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. Genomics. 1989; 5(1):61-4. DOI: 10.1016/0888-7543(89)90086-4. View

Youl P, Aitken J, Hayward N, Hogg D, Liu L, Lassam N . Melanoma in adolescents: a case-control study of risk factors in Queensland, Australia. Int J Cancer. 2002; 98(1):92-8. DOI: 10.1002/ijc.10117. View

. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996. J Clin Oncol. 1996; 14(5):1730-6; discussion 1737-40. DOI: 10.1200/JCO.1996.14.5.1730. View

Vasen H, Gruis N, Frants R, van der Velden P, Hille E, Bergman W . Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer. 2000; 87(6):809-11. View

10.

Huot T, Rowe J, Harland M, Drayton S, Brookes S, Gooptu C . Biallelic mutations in p16(INK4a) confer resistance to Ras- and Ets-induced senescence in human diploid fibroblasts. Mol Cell Biol. 2002; 22(23):8135-43. PMC: 134058. DOI: 10.1128/MCB.22.23.8135-8143.2002. View

11.

Wachsmuth R, Harland M, Bishop J . The atypical-mole syndrome and predisposition to melanoma. N Engl J Med. 1998; 339(5):348-9. DOI: 10.1056/NEJM199807303390515. View

12.

Liu L, Dilworth D, Gao L, Monzon J, Summers A, Lassam N . Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet. 1999; 21(1):128-32. DOI: 10.1038/5082. View

13.

Nancarrow D, Palmer J, Walters M, Kerr B, Hafner G, Garske L . Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees. Genomics. 1992; 12(1):18-25. DOI: 10.1016/0888-7543(92)90401-d. View

14.

Goldstein A, Dracopoli N, Ho E, Fraser M, Kearns K, Bale S . Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity. Am J Hum Genet. 1993; 52(3):537-50. PMC: 1682153. View

15.

Rizos H, Puig S, Badenas C, Malvehy J, Darmanian A, Jimenez L . A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. Oncogene. 2001; 20(39):5543-7. DOI: 10.1038/sj.onc.1204728. View

16.

Ciotti P, Struewing J, Mantelli M, Chompret A, Avril M, Santi P . A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. Am J Hum Genet. 2000; 67(2):311-9. PMC: 1287180. DOI: 10.1086/303001. View

17.

Jemal A, Devesa S, Hartge P, Tucker M . Recent trends in cutaneous melanoma incidence among whites in the United States. J Natl Cancer Inst. 2001; 93(9):678-83. DOI: 10.1093/jnci/93.9.678. View

18.

van der Velden P, Bergman W, Monique H, Hurks H, Frants R, Gruis N . Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma. Cancer Res. 2001; 61(13):5303-6. View

19.

Bataille V, Bishop J, Sasieni P, Swerdlow A, Pinney E, Griffiths K . Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study. Br J Cancer. 1996; 73(12):1605-11. PMC: 2074531. DOI: 10.1038/bjc.1996.302. View

20.

Palmer J, Duffy D, Box N, Aitken J, OGorman L, Green A . Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?. Am J Hum Genet. 2000; 66(1):176-86. PMC: 1288324. DOI: 10.1086/302711. View