@article{c15b9546b80c45c681bf275fc87bce18,
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.",
keywords = "CDKN2A, familial, genetic counseling, genetic testing, hereditary, melanoma, p16",
author = "Leachman, {Sancy A.} and John Carucci and Wendy Kohlmann and Banks, {Kimberly C.} and Asgari, {Maryam M.} and Wilma Bergman and Giovanna Bianchi-Scarr{\`a} and Teresa Brentnall and {Bressac-de Paillerets}, Brigitte and William Bruno and Clara Curiel-Lewandrowski and {de Snoo}, {Femke A.} and Tadeusz Debniak and Demierre, {Marie France} and David Elder and Goldstein, {Alisa M.} and Jane Grant-Kels and Halpern, {Allan C.} and Christian Ingvar and Kefford, {Richard F.} and Julie Lang and MacKie, {Rona M.} and Mann, {Graham J.} and Kurt Mueller and Julia Newton-Bishop and H{\aa}kan Olsson and Petersen, {Gloria M.} and Susana Puig and Darrell Rigel and Swetter, {Susan M.} and Tucker, {Margaret A.} and Emanuel Yakobson and Zitelli, {John A.} and Hensin Tsao",
note = "Funding Information: Supported by numerous grants. The work of GenoMEL, including Drs Leachman, Bergman, Debniak, Newton-Bishop, Puig, Bianchi-Scarr{\`a}, 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, R{\'e}seau Oncog{\'e}n{\'e}tique pour les Cancers Rares–M{\'e}lanome. 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. ",
year = "2009",
month = oct,
doi = "10.1016/j.jaad.2009.03.016",
language = "English",
volume = "61",
pages = "677.e1--677.e14",
journal = "Journal of the American Academy of Dermatology",
issn = "0190-9622",
publisher = "Mosby Inc.",
number = "4",
}