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