Selection criteria for genetic assessment of patients with familial melanoma.
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.
Leachman
Sancy A
SA
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112-5550, USA. sancy.leachman@hci.utah.edu
Carucci
John
J
Kohlmann
Wendy
W
Banks
Kimberly C
KC
Asgari
Maryam M
MM
Bergman
Wilma
W
Bianchi-Scarrà
Giovanna
G
Brentnall
Teresa
T
Bressac-de Paillerets
Brigitte
B
Bruno
William
W
Curiel-Lewandrowski
Clara
C
de Snoo
Femke A
FA
Debniak
Tadeusz
T
Demierre
Marie-France
MF
Elder
David
D
Goldstein
Alisa M
AM
Grant-Kels
Jane
J
Halpern
Allan C
AC
Ingvar
Christian
C
Kefford
Richard F
RF
Lang
Julie
J
MacKie
Rona M
RM
Mann
Graham J
GJ
Mueller
Kurt
K
Newton-Bishop
Julia
J
Olsson
Håkan
H
Petersen
Gloria M
GM
Puig
Susana
S
Rigel
Darrell
D
Swetter
Susan M
SM
Tucker
Margaret A
MA
Yakobson
Emanuel
E
Zitelli
John A
JA
Tsao
Hensin
H
D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D018579:Patient Selection; D012878:Skin Neoplasms / Q000235:genetics*