Genetic counseling in melanoma

Dermatologic Therapy

Volumn 25, Issue 5, 2012, Pages 397-402

  Badenas, Celia ^a,b   Aguilera, Paula ^a,b   Puig Butillé, Joan A ^a,b   Carrera, Cristina ^a,b   Malvehy, Josep ^a,b   Puig, Susana ^a,b  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

gene; genetic counseling; melanoma; mutation; predisposition

Indexed keywords

CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE INHIBITOR 2A; MELANOCORTIN 1 RECEPTOR; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; PROTEIN P16;

ARTICLE; CANCER GENETICS; CANCER RISK; CANCER SCREENING; DNA DAMAGE; EPILUMINESCENCE MICROSCOPY; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; HUMAN; KIDNEY CARCINOMA; MELANOGENESIS; MELANOMA; PROTEIN DOMAIN; RADIATION EXPOSURE; SINGLE NUCLEOTIDE POLYMORPHISM; ULTRAVIOLET RADIATION;

DERMOSCOPY; FAMILY HEALTH; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEALTH BEHAVIOR; HUMANS; INCIDENCE; MELANOMA; MUTATION; PHOTOGRAPHY; RISK FACTORS; SKIN NEOPLASMS;

EID: 84867338631     PISSN: 13960296     EISSN: 15298019     Source Type: Journal    
DOI: 10.1111/j.1529-8019.2012.01499.x     Document Type: Article

References (46)

1. Gandini S, Sera F, Cattaruzza MS, et al. Meta-analysis of risk factors for cutaneous melanoma: I. Common and atypical naevi. Eur J Cancer 2005: 41: 28-44.
2. Bradford PT, Freedman DM, Goldstein AM, Tucker MA,. Increased risk of second primary cancers after a diagnosis of melanoma. Arch Dermatol 2010: 146: 265-272.
3. Winship IM, Dudding TE,. Lessons from the skin-cutaneous features of familial cancer. Lancet Oncol 2008: 9: 462-472.
4. Florell SR, Boucher KM, Garibotti G, et al. Population-based analysis of prognostic factors and survival in familial melanoma. J Clin Oncol 2005: 23: 7168-7177.
5. Anderson DE, Badzioch MD,. Hereditary cutaneous malignant melanoma: a 20-year family update. Anticancer Res 1991: 11: 433-437.
6. Kefford RF, Newton Bishop JA, Bergman W, Tucker MA,. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol 1999: 17: 3245-3251.
7. Serrano M, Hannon GJ, Beach D,. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 1993: 366: 704-707.
8. Serrano M, Gomez-Lahoz E, DePinho RA, Beach D, Bar-Sagi D,. Inhibition of ras-induced proliferation and cellular transformation by p16INK4. Science 1995: 267: 249-252.
9. Pomerantz J, Schreiber-Agus N, Liegeois NJ, et al. The Ink4a tumor suppressor gene product, p19Arf, interacts with MDM2 and neutralizes MDM2's inhibition of p53. Cell 1998: 92: 713-723.
10. Zhang Y, Xiong Y, Yarbrough WG,. ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell 1998: 92: 725-734.
11. Bartek J, Bartkova J, Lukas J,. DNA damage signalling guards against activated oncogenes and tumour progression. Oncogene 2007: 26: 7773-7779.
12. Serrano M, Lin AW, McCurrach ME, Beach D, Lowe SW,. Oncogenic ras provokes premature cell senescence associated with accumulation of p53 and p16INK4a. Cell 1997: 88: 593-602.
13. Zuo L, Weger J, Yang Q, et al. Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 1996: 12: 97-99.
14. Goldstein AM, Chan M, Harland M, et al. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 2006: 66: 9818-9828.
15. Begg CB, Orlow I, Hummer AJ, et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst 2005: 97: 1507-1515.
16. Bakos RM, Besch R, Zoratto GG, et al. The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil. Exp Dermatol 2011: 20: 890-893.
17. Debniak T, Scott R, Masojc B, et al. MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk. Int J Cancer 2006: 119: 2597-2602.
18. Puig S, Malvehy J, Badenas C, et al. Role of the CDKN2A locus in patients with multiple primary melanomas. J Clin Oncol 2005: 23: 3043-3051.
19. Spica T, Portela M, Gerard B, et al. The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations. J Invest Dermatol 2006: 126: 1657-1660.
20. Bertram CG, Gaut RM, Barrett JH, et al. An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele. J Invest Dermatol 2002: 119: 961-965.
21. Suzuki I, Cone RD, Im S, Nordlund J, Abdel-Malek ZA,. Binding of melanotropic hormones to the melanocortin receptor MC1R on human melanocytes stimulates proliferation and melanogenesis. Endocrinology 1996: 137: 1627-1633.
22. Frandberg PA, Doufexis M, Kapas S, Chhajlani V,. Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. Biochem Biophys Res Commun 1998: 245: 490-492.
23. Schioth HB, Phillips SR, Rudzish R, Birch-Machin MA, Wikberg JE, Rees JL,. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem Biophys Res Commun 1999: 260: 488-491.
24. Williams PF, Olsen CM, Hayward NK, Whiteman DC,. Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden. Int J Cancer 2011: 129: 1730-1740.
25. Box NF, Duffy DL, Chen W, et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 2001: 69: 765-773.
26. Fargnoli MC, Gandini S, Peris K, Maisonneuve P, Raimondi S,. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. Eur J Cancer 2010: 46: 1413-1420.
27. Levy C, Khaled M, Fisher DE,. MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med 2006: 12: 406-414.
28. Yokoyama S, Woods SL, Boyle GM, et al. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature 2011: 480: 99-103.
29. Bertolotto C, Lesueur F, Giuliano S, et al. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2011: 480: 94-98.
30. Riley BD, Culver JO, Skrzynia C, et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 2011: 21: 151-161.
31. Kamb A, Shattuck-Eidens D, Eeles R, et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 1994: 8: 23-26.
32. Hussussian CJ, Struewing JP, Goldstein AM, et al. Germline p16 mutations in familial melanoma. Nat Genet 1994: 8: 15-21.
33. Aspinwall LG, Leaf SL, Dola ER, Kohlmann W, Leachman SA,. CDKN2A/p16 genetic test reporting improves early detection intentions and practices in high-risk melanoma families. Cancer Epidemiol Biomarkers Prev 2008: 17: 1510-1519.
34. Hansen CB, Wadge LM, Lowstuter K, Boucher K, Leachman SA,. Clinical germline genetic testing for melanoma. Lancet Oncol 2004: 5: 314-319.
35. Tsao H, Zhang X, Kwitkiwski K, Finkelstein DM, Sober AJ, Haluska FG,. Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma. Arch Dermatol 2000: 136: 1118-1122.
36. Leachman SA, Carucci J, Kohlmann W, et al. Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol 2009: 61: 677-684.
37. Parker JF, Florell SR, Alexander A, DiSario JA, Shami PJ, Leachman SA,. Pancreatic carcinoma surveillance in patients with familial melanoma. Arch Dermatol 2003: 139: 1019-1025.
38. Goldstein AM, Chan M, Harland M, et al. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet 2007: 44: 99-106.
39. Carli P, De Giorgi V, Palli D, et al. Dermatologist detection and skin self-examination are associated with thinner melanomas: results from a survey of the Italian Multidisciplinary Group on Melanoma. Arch Dermatol 2003: 139: 607-612.
40. Salerni G, Carrera C, Lovatto L, et al. Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanoma. J Am Acad Dermatol 2012: 67: e17-27.
41. de Snoo FA, Bishop DT, Bergman W, et al. Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res 2008: 14: 7151-7157.
42. Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 2002: 94: 894-903.
43. Udayakumar D, Tsao H,. Melanoma genetics: an update on risk-associated genes. Hematol Oncol Clin North Am 2009: 23: 415-429, vii.
44. Teerlink C, Farnham J, Allen-Brady K, et al. A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q. Hum Genet 2012: 131: 77-85.
45. Hoiom V, Tuominen R, Hansson J,. Genome-wide linkage analysis of Swedish families to identify putative susceptibility loci for cutaneous malignant melanoma. Genes Chromosomes Cancer 2011: 50: 1076-1084.
46. Salerni G, Lovatto L, Carrera C, Puig S, Malvehy J,. Melanomas detected in a follow-up program compared with melanomas referred to a melanoma unit. Arch Dermatol 2011: 147: 549-555.