TY - JOUR
T1 - Clinical germline genetic testing for melanoma
AU - Hansen, Christopher B.
AU - Wadge, Lisa M.
AU - Lowstuter, Katrina
AU - Boucher, Kenneth
AU - Leachman, Sancy A.
N1 - Funding Information:
Primary references were identified through searches of the PubMed and MEDLINE databases, with the search terms “p16”, “CDKN2A”, or “INK4a” in combination with “mutation testing”, “genetic testing”, or “genetic test”. Secondary sources were identified by careful review of the primary references. Conflicts of interest SAL has received a US$1500 honorarium from Myriad Genetic Laboratories, Inc for a guest lecture. Myriad Genetic Laboratories, Inc produces a commercial test that detects mutations in CDKN2A . Acknowledgments We thank the following for their generous support of this work: Doris Duke Charitable Foundation, Huntsman Cancer Foundation, the Tom C Mathews Jr Familial Melanoma Research Clinic, and Huntsman General Clinical Research Center. We also thank Randall Burt, Saundra Buys, Douglas Grossman, Wolfram Samlowski, Lisa Cannon-Albright, April Alexander, Vickie Venne, and Marybeth Hart for critical review of the paper.
PY - 2004/5/1
Y1 - 2004/5/1
N2 - Clinical genetic testing for mutations in CDKN2A (cyclin-dependent kinase inhibitor 2A), a melanoma susceptibility gene, is now available. The International Melanoma Genetics Consortium advocates that genetic testing for CDKN2A should be done only as part of a research protocol. Experience with genetic testing for other cancer-susceptibility genes indicates that CDKN2A testing has enormous potential for the prevention and detection of a deadly disease. However, clinicians need to understand the benefits and shortcomings of clinical CDKN2A testing so that it can be used advantageously. Here, we examine whether CDKN2A meets the recommendations of the American Society of Clinical Oncology (ASCO) for cancer-susceptibility genetic testing. Although genetic testing for hereditary melanoma should, whenever possible, occur within research protocols, it might be successfully done outside of research protocols if attention is paid to selection, education, and counselling needs of patients; valid test interpretation; and the changing of medical management in appropriate individuals.
AB - Clinical genetic testing for mutations in CDKN2A (cyclin-dependent kinase inhibitor 2A), a melanoma susceptibility gene, is now available. The International Melanoma Genetics Consortium advocates that genetic testing for CDKN2A should be done only as part of a research protocol. Experience with genetic testing for other cancer-susceptibility genes indicates that CDKN2A testing has enormous potential for the prevention and detection of a deadly disease. However, clinicians need to understand the benefits and shortcomings of clinical CDKN2A testing so that it can be used advantageously. Here, we examine whether CDKN2A meets the recommendations of the American Society of Clinical Oncology (ASCO) for cancer-susceptibility genetic testing. Although genetic testing for hereditary melanoma should, whenever possible, occur within research protocols, it might be successfully done outside of research protocols if attention is paid to selection, education, and counselling needs of patients; valid test interpretation; and the changing of medical management in appropriate individuals.
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U2 - 10.1016/S1470-2045(04)01469-X
DO - 10.1016/S1470-2045(04)01469-X
M3 - Comment/debate
C2 - 15120668
AN - SCOPUS:2142645979
SN - 1470-2045
VL - 5
SP - 314
EP - 319
JO - Lancet Oncology
JF - Lancet Oncology
IS - 5
ER -