Clinical germline genetic testing for melanoma

Lancet Oncology

Volumn 5, Issue 5, 2004, Pages 314-319

  Hansen, Christopher B ^a   Wadge, Lisa M ^b   Lowstuter, Katrina ^b   Boucher, Kenneth ^b   Leachman, Sancy A ^a,c  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH   (United States)

^c NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR; CYCLIN DEPENDENT KINASE INHIBITOR 2A; UNCLASSIFIED DRUG;

ARTICLE; CANCER SUSCEPTIBILITY; CLINICAL GENETICS; FAMILY; GENETIC COUNSELING; GENETIC SELECTION; GENETIC SUSCEPTIBILITY; GERM LINE; HEREDITY; HUMAN; INFORMED CONSENT; INHERITANCE; MEDICAL CARE; MELANOMA; MUTATIONAL ANALYSIS; PANCREAS CANCER; PATIENT EDUCATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RISK BENEFIT ANALYSIS;

EID: 2142645979     PISSN: 14702045     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1470-2045(04)01469-X     Document Type: Note

References (39)

1. Hayward NK. Genetics of melanoma predisposition Oncogene 22 2003 3053-3062
2. Tucker MA Goldstein AM. Melanoma etiology: where are we? Oncogene 22 2003 3042-3052
3. Briollais L Chompret A Guilloud-Bataille M et al. Patterns of familial aggregation of three melanoma risk factors: great number of naevi, light phototype and high degree of sun exposure Int J Epidemiol 29 2000 408-415
4. 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 Genetic Consortium J Clin Oncol 17 1999 3245-3251
5. Piepkorn M. Melanoma genetics: an update with focus on the CDKN2A(p16)/ARF tumor suppressors J Am Acad Dermatol 42 2000 705-722
6. Aitken J Welch J Duffy D et al. CDKN2A variants in a population-based sample of Queensland families with melanoma J Natl Cancer Inst 91 1999 446-452
7. Bishop DT Demenais F Goldstein AM et al. Geographic variation in the penetrance of CDKN2A mutations for melanoma J Natl Cancer Inst 94 2002 894-903
8. Rulyak SJ Brentnall TA Lynch HT Austin MA. Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome Cancer 98 2003 798-804
9. Parker JF Florell SR Alexander A et al. Pancreatic carcinoma surveillance in patients with familial melanoma Arch Dermatol 139 2003 1019-1025
10. Zuo L Weger J Yang Q et al. Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma Nat Genet 12 1996 97-99
11. Soufir N Avril MF Chompret A et al. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France Hum Mol Genet 7 1998 209-216
12. Randerson-Moor JA Harland M Williams S et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family Hum Mol Genet 10 2001 55-62
13. Hewitt C Lee Wu C Evans G et al. Germline mutation of ARF in a melanoma kindred Hum Mol Genet 11 2002 1273-1279
14. Rizos H Puig S Badenas C et al. A melanoma-associated germline mutation in exon 1beta inactivates p14ARF Oncogene 20 2001 5543-5547
15. Genetests. http://www.genetests.org , accessed Feb 2004.
16. Myriad Genetics, Inc. http://www.myriad.com/pr/20010927.html (accessed Feb, 2004).
17. Kefford R Bishop JN Tucker M et al. Genetic testing for melanoma Lancet Oncol 3 2002 653-654
18. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on Feb 20, 1996. J Clin Oncol 1996; 14: 1730-1736.
19. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility, adopted on March 1, 2003. J Clin Oncol 2003; 21.
20. ink4a) gene in 62 Italian malignant melanoma families Am J Med Genet 107 2002 214-221
21. Hashemi J Platz A Ueno T et al. CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas Cancer Res 60 2000 6864-6867
22. Monzon J Liu L Brill H et al. CDKN2A mutations in multiple primary melanomas N Engl J Med 338 1998 879-887
23. Tsao H Zhang X Kwitkiwiski K et al. Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma Arch Dermatol 136 2000 1118-1122
24. Melanoma Genetics Consortium. The resource on familial cancer gentics. Melanoma database: eMelanoBase. http://www.wmi.usyd.edu.au:8080/melanoma.html (accessed Mar, 2004).
25. Fung DC Holland EA Becker TM et al. eMelanoBase: an online locus-specific variant database for familial melanoma Hum Mutat 21 2003 2-7
26. GeneTests. http://www.genetests.org , accessed Mar, 2004.
27. Goldstein AM Fraser MC Struewing JP. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations N Engl J Med 333 1995 970-974
28. de Snoo FA Bergman W Guis NA. Familial melanoma: a complex disorder leading to controversy on DNA testing Familial Cancer 2 2003 109-116
29. Masri GD Clark WH Jr Guerry D 4th et al. Screening and surveillance of patients at high risk for malignant melanoma result in detection of earlier disease J Am Acad Dermatol 22 1990 1042-1048
30. 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 139 2003 607-612
31. Robinson JK Fisher SG Turrisi RJ. Predictors of skin self-examination performance Cancer 95 2002 135-146
32. Robinson JK Rigel DS Amonette RA. What promotes skin self-examination? J Am Acad Dermatol 38 1998 752-757
33. Borg A Sandberg T Nilsson K et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families J Natl Cancer Inst 92 2000 1260-1266
34. Rulyak SJ Kimmey MB Veenstra DL Brentnall TA. Cost-effectiveness of pancreatic cancer screening in familial pancreatic cancer kindreds Gastrointest Endosc 57 2003 23-29
35. Kefford RF Mann GJ. Is there a role for genetic testing in patients with melanoma? Curr Opin Oncol 15 2003 157-161
36. Peterson E Milliron KJ Lewis KE et al. Health insurance and discrimination concerns and BRCA 1/2 testing in a clinic population Cancer Epidemiol Biomarkers Prev 11 2002 79-87
37. Botkin JR Smith KR Croyle RT et al. Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing A J Med Gen 118 2003 201-209
38. Peshkin BN Schwartz MD Isaacs C et al. Utilization of breast cancer screening in a clinically based sample of women after BRCA1/2 testing Cancer Epidemiol Biomarkers Prev 11 2002 1115-1118
39. Geller G Botkin JR Green MJ et al. Genetic testing for susceptibility to adult-onset cancer: the process and content of informed consent JAMA 277 1997 1467-1474