Hildur Helgadottir1, Håkan Olsson2, Margaret A Tucker3, Xiaohong R Yang3, Veronica Höiom4, Alisa M Goldstein3. 1. Department of Oncology and Pathology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. hildur.helgadottir@sll.se. 2. Department of Oncology, Lund University and Skåne University Hospital, Lund, Sweden. 3. Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. 4. Department of Oncology and Pathology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Abstract
PURPOSE: Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations. METHODS: Swedish and US melanoma-prone families with CDKN2A mutations were included. Data was collected on tumors diagnosed among family members. Among the CDKN2A mutated families, members with CDKN2A wt status who were diagnosed with melanoma were designated phenocopies. RESULTS: Of patients with melanoma in the CDKN2A mutated families (n = 266), 7.1%, were seen among members with CDKN2A wt status (phenocopy rate). Among the CDKN2A wt family members of the CDKN2A mutated families (n = 256), 7.4% were diagnosed with melanoma. The prospective relative risk for melanomas was significantly higher among the CDKN2A wt subjects compared with population-based controls (7.4 (95% confidence interval 1.7-33.2)), while no elevated risks of nonmelanoma cancers were seen and their offspring did not have significantly elevated risks of melanoma or other cancers. CONCLUSION: Members of CDKN2A mutation carrying families who test negative for their family's mutation have moderately increased risk for melanoma and should, in addition to being considered for continuing dermatologic surveillance, be encouraged to follow sun safety recommendations and practice skin self-exams.
PURPOSE: Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations. METHODS: Swedish and US melanoma-prone families with CDKN2A mutations were included. Data was collected on tumors diagnosed among family members. Among the CDKN2A mutated families, members with CDKN2A wt status who were diagnosed with melanoma were designated phenocopies. RESULTS: Of patients with melanoma in the CDKN2A mutated families (n = 266), 7.1%, were seen among members with CDKN2A wt status (phenocopy rate). Among the CDKN2A wt family members of the CDKN2A mutated families (n = 256), 7.4% were diagnosed with melanoma. The prospective relative risk for melanomas was significantly higher among the CDKN2A wt subjects compared with population-based controls (7.4 (95% confidence interval 1.7-33.2)), while no elevated risks of nonmelanoma cancers were seen and their offspring did not have significantly elevated risks of melanoma or other cancers. CONCLUSION: Members of CDKN2A mutation carrying families who test negative for their family's mutation have moderately increased risk for melanoma and should, in addition to being considered for continuing dermatologic surveillance, be encouraged to follow sun safety recommendations and practice skin self-exams.
Authors: Jasper I van der Rhee; Pieta Krijnen; Nelleke A Gruis; Femke A de Snoo; Hans F A Vasen; Hein Putter; Nicole A Kukutsch; Wilma Bergman Journal: J Am Acad Dermatol Date: 2011-05-12 Impact factor: 11.527
Authors: F Demenais; H Mohamdi; V Chaudru; A M Goldstein; J A Newton Bishop; D T Bishop; P A Kanetsky; N K Hayward; E Gillanders; D E Elder; M F Avril; E Azizi; P van Belle; W Bergman; G Bianchi-Scarrà; B Bressac-de Paillerets; D Calista; C Carrera; J Hansson; M Harland; D Hogg; V Höiom; E A Holland; C Ingvar; M T Landi; J M Lang; R M Mackie; G J Mann; M E Ming; C J Njauw; H Olsson; J Palmer; L Pastorino; S Puig; J Randerson-Moor; M Stark; H Tsao; M A Tucker; P van der Velden; X R Yang; N Gruis Journal: J Natl Cancer Inst Date: 2010-09-28 Impact factor: 13.506
Authors: D Timothy Bishop; Florence Demenais; Alisa M Goldstein; Wilma Bergman; Julia Newton Bishop; Brigitte Bressac-de Paillerets; Agnès Chompret; Paola Ghiorzo; Nelleke Gruis; Johan Hansson; Mark Harland; Nicholas Hayward; Elizabeth A Holland; Graham J Mann; Michela Mantelli; Derek Nancarrow; Anton Platz; Margaret A Tucker Journal: J Natl Cancer Inst Date: 2002-06-19 Impact factor: 13.506
Authors: Yelena P Wu; Lisa G Aspinwall; Bridget Parsons; Tammy K Stump; Katy Nottingham; Wendy Kohlmann; Marjan Champine; Pamela Cassidy; Sancy A Leachman Journal: J Community Genet Date: 2020-01-18