AIM: To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families. METHODS: From January 2001 till the end of 2003 we prospectively screened 19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history. RESULTS: Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS - 1g>a). No mutations could be detected in 3 children. CONCLUSIONS: The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling.
AIM: To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families. METHODS: From January 2001 till the end of 2003 we prospectively screened 19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history. RESULTS: Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS - 1g>a). No mutations could be detected in 3 children. CONCLUSIONS: The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling.
Authors: S Auroy; M F Avril; A Chompret; D Pham; A M Goldstein; G Bianchi-Scarrà; T Frebourg; P Joly; A Spatz; C Rubino; F Demenais; B Bressac-de Paillerets Journal: Genes Chromosomes Cancer Date: 2001-11 Impact factor: 5.006
Authors: E A Yakobson; A Zlotogorski; R Shafir; M Cohen; M Icekson; M Landau; S Brenner; S Usher; H Peretz Journal: Clin Chem Lab Med Date: 1998-08 Impact factor: 3.694
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: Sancy A Leachman; John Carucci; Wendy Kohlmann; Kimberly C Banks; Maryam M Asgari; Wilma Bergman; Giovanna Bianchi-Scarrà; Teresa Brentnall; Brigitte Bressac-de Paillerets; William Bruno; Clara Curiel-Lewandrowski; Femke A de Snoo; Tadeusz Debniak; Marie-France Demierre; David Elder; Alisa M Goldstein; Jane Grant-Kels; Allan C Halpern; Christian Ingvar; Richard F Kefford; Julie Lang; Rona M MacKie; Graham J Mann; Kurt Mueller; Julia Newton-Bishop; Håkan Olsson; Gloria M Petersen; Susana Puig; Darrell Rigel; Susan M Swetter; Margaret A Tucker; Emanuel Yakobson; John A Zitelli; Hensin Tsao Journal: J Am Acad Dermatol Date: 2009-10 Impact factor: 11.527