Selection criteria for genetic assessment of patients with familial melanoma - 07/08/11
Doi : 10.1016/j.jaad.2009.03.016
Sancy A. Leachman, MD, PhD a, ⁎ 
, John Carucci, MD, PhD b, Wendy Kohlmann, MS a, Kimberly C. Banks, MS c, Maryam M. Asgari, MD d, Wilma Bergman, MD e, Giovanna Bianchi-Scarrà, PhD f, Teresa Brentnall, MD g, Brigitte Bressac-de Paillerets, PharmD h, William Bruno, MD f, Clara Curiel-Lewandrowski, MD i, Femke A. de Snoo, PhD e, Tadeusz Debniak, MD j, Marie-France Demierre, MD k, David Elder, MBChB l, Alisa M. Goldstein, PhD m, Jane Grant-Kels, MD n, Allan C. Halpern, MD o, Christian Ingvar, MD, PhD p, Richard F. Kefford, MBBS, PhD q, Julie Lang, MD r, Rona M. MacKie, MD s, Graham J. Mann, MBBS, PhD q, Kurt Mueller, MD t, Julia Newton-Bishop, MD u, Håkan Olsson, MD v, Gloria M. Petersen, PhD w, Susana Puig, MD x, Darrell Rigel, MD y, Susan M. Swetter, MD z, Margaret A. Tucker, MD m, Emanuel Yakobson, PhD aa, John A. Zitelli, MD bb, Hensin Tsao, MD, PhD cc
, John Carucci, MD, PhD b, Wendy Kohlmann, MS a, Kimberly C. Banks, MS c, Maryam M. Asgari, MD d, Wilma Bergman, MD e, Giovanna Bianchi-Scarrà, PhD f, Teresa Brentnall, MD g, Brigitte Bressac-de Paillerets, PharmD h, William Bruno, MD f, Clara Curiel-Lewandrowski, MD i, Femke A. de Snoo, PhD e, Tadeusz Debniak, MD j, Marie-France Demierre, MD k, David Elder, MBChB l, Alisa M. Goldstein, PhD m, Jane Grant-Kels, MD n, Allan C. Halpern, MD o, Christian Ingvar, MD, PhD p, Richard F. Kefford, MBBS, PhD q, Julie Lang, MD r, Rona M. MacKie, MD s, Graham J. Mann, MBBS, PhD q, Kurt Mueller, MD t, Julia Newton-Bishop, MD u, Håkan Olsson, MD v, Gloria M. Petersen, PhD w, Susana Puig, MD x, Darrell Rigel, MD y, Susan M. Swetter, MD z, Margaret A. Tucker, MD m, Emanuel Yakobson, PhD aa, John A. Zitelli, MD bb, Hensin Tsao, MD, PhD cc a Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah
b Department of Dermatology, Weill Medical College of Cornell University, New York, New York
c Cancer Genetics Program, Regional Cancer Center, St Joseph Hospital, Orange, California
d Division of Research, Kaiser Permanente Northern California, Oakland, California
e Department of Dermatology and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
f Department of Oncology Biology and Genetics/Medical Genetica Service, University of Genoa, Genoa, Italy
g Department of Medicine, University of Washington, Seattle, Washington
h Service de Génétique et Centre National de al Recherche Scientific France-2939 “Génomes and Cancer,” Institut de Cancérologie Gustave Roussy, Villejuif, France
i Arizona Cancer Center, Section of Dermatology, University of Arizona, Tucson, Arizona
j Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
k Department of Dermatology, Boston University School of Medicine, Boston, Massachusetts
l Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
m Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland
n Department of Dermatology, University of Connecticut Health Center, Farmington, Connecticut
o Dermatology Service, Memorial Sloan-Kettering Cancer Center, New York, New York
p Department of Surgery, Lund University Hospital, Lund, Sweden
v Department of Oncology and Cancer Epidemiology, Lund University Hospital, Lund, Sweden
q Westmead Institute for Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Sydney, Australia
r Duncan Guthrie Institute of Medical Genetics, Glasgow, United Kingdom
s Departments of Public Health and Health Policy and Medical Genetics, University of Glasgow, Glasgow, United Kingdom
t Department of Dermatology, Gundersen Lutheran Medical Center, La Crosse, Wisconsin
u Division of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
w Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota
x Melanoma Unit, Dermatology Department, Institut d’Investigacions Biomédiques August Pi I Sunyer, Hospital Clinic, and Centro de Investigacion Biobedica en Red de Enfermedades, Barcelona, Spain
y Department of Dermatology, New York University School of Medicine, New York, New York
z Department of Dermatology, Pigmented Lesion and Melanoma Program, Stanford University Medical Center, Department of Veterans Affairs Palo Alto Health Care System, Palo Alto, California
aa Laboratory of Clinical Biochemistry, Tel Aviv University, Sourasky Medical Center, Tel Aviv, Israel
bb Department of Dermatology, University of Pittsburgh, Pittsburgh, Pennsylvania
cc Department of Dermatology, Harvard Medical School, Boston, Massachusetts
Reprint requests: Sancy A. Leachman, MD, PhD, Department of Dermatology, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope Dr, Salt Lake City, UT 84112-5550.Abstract |
Approximately 5% to 10% of melanoma may be hereditary in nature, and about 2% of melanoma can be specifically attributed to pathogenic germline mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A). To appropriately identify the small proportion of patients who benefit most from referral to a genetics specialist for consideration of genetic testing for CDKN2A, we have reviewed available published studies of CDKN2A mutation analysis in cohorts with invasive, cutaneous melanoma and found variability in the rate of CDKN2A mutations based on geography, ethnicity, and the type of study and eligibility criteria used. Except in regions of high melanoma incidence, such as Australia, we found higher rates of CDKN2A positivity in individuals with 3 or more primary invasive melanomas and/or families with at least one invasive melanoma and two or more other diagnoses of invasive melanoma and/or pancreatic cancer among first- or second-degree relatives on the same side of the family. The work summarized in this review should help identify individuals who are appropriate candidates for referral for genetic consultation and possible testing.
Le texte complet de cet article est disponible en PDF.Key words : CDKN2A, familial, genetic counseling, genetic testing, hereditary, melanoma, p16
Abbreviations used : CAN, CDKN2A, DN
Plan
| Supported by numerous grants. The work of GenoMEL, including Drs Leachman, Bergman, Debniak, Newton-Bishop, Puig, Bianchi-Scarrà, Kefford, Mann, Tsao, and Elder, is supported by the National Institutes of Health (NIH) RO1 CA-83115 and GenoMEL 01872 Network of Excellence. The work of Dr Puig is partially supported by Fondo de Investigaciones Sanitarias, grant 0019/03 and 06/0265, National Cancer Institute (NCI). The work of Ms Kohlmann and Dr Leachman is supported by the Huntsman Cancer Foundation Genetic Counseling Shared Resource and core facilities supported by P30 CA042014 awarded to Huntsman Cancer Institute. The work of Dr Bressac-de Paillerets is supported by the Institut National du Cancer, Réseau Oncogénétique pour les Cancers Rares–Mélanome. The work of Dr Newton-Bishop is supported by Cancer Research-United Kingdom grant C588/A4994. The work of Drs Goldstein and Tucker are supported by the Intramural Research Program of the NIH, Division of Cancer Epidemiology and Genetics. The work of Dr Asgari is supported by the National Institute of Arthritis Musculoskeletal and Skin Diseases (K23 AR 051037). The work of Dr Tsao is supported by P50 CA-93683 (NCI), RSG MGO-112970 (American Cancer Society), NIH R01 CA-83115. |
|
| Conflicts of interest: None declared. |
© 2009
American Academy of Dermatology, Inc.. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 61 - N° 4
P. 677.e1-677.e14 - octobre 2009 Retour au numéro
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