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A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.
Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B. Yakobson E, et al. Among authors: chompret a. Eur J Hum Genet. 2003 Apr;11(4):288-96. doi: 10.1038/sj.ejhg.5200961. Eur J Hum Genet. 2003. PMID: 12700603
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.
Ciotti P, Struewing JP, Mantelli M, Chompret A, Avril MF, Santi PL, Tucker MA, Bianchi-Scarrà G, Bressac-de Paillerets B, Goldstein AM. Ciotti P, et al. Among authors: chompret a. Am J Hum Genet. 2000 Aug;67(2):311-9. doi: 10.1086/303001. Epub 2000 Jun 22. Am J Hum Genet. 2000. PMID: 10869234 Free PMC article.
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
Kannengiesser C, Brookes S, del Arroyo AG, Pham D, Bombled J, Barrois M, Mauffret O, Avril MF, Chompret A, Lenoir GM, Sarasin A; French Hereditary Melanoma Study Group; Peters G, Bressac-de Paillerets B. Kannengiesser C, et al. Among authors: chompret a. Hum Mutat. 2009 Apr;30(4):564-74. doi: 10.1002/humu.20845. Hum Mutat. 2009. PMID: 19260062
Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.
Laud K, Marian C, Avril MF, Barrois M, Chompret A, Goldstein AM, Tucker MA, Clark PA, Peters G, Chaudru V, Demenais F, Spatz A, Smith MW, Lenoir GM, Bressac-de Paillerets B; French Hereditary Melanoma Study Group. Laud K, et al. Among authors: chompret a. J Med Genet. 2006 Jan;43(1):39-47. doi: 10.1136/jmg.2005.033498. Epub 2005 Jun 3. J Med Genet. 2006. PMID: 15937071 Free PMC article.
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA; Melanoma Genetics Consortium. Bishop DT, et al. Among authors: chompret a. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. doi: 10.1093/jnci/94.12.894. J Natl Cancer Inst. 2002. PMID: 12072543
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, MacKie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E; Lund Melanoma Study Group; Melanoma Genetics Consortium (GenoMEL). Goldstein AM, et al. Among authors: chompret a. J Med Genet. 2007 Feb;44(2):99-106. doi: 10.1136/jmg.2006.043802. Epub 2006 Aug 11. J Med Genet. 2007. PMID: 16905682 Free PMC article.
Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.
Auroy S, Avril MF, Chompret A, Pham D, Goldstein AM, Bianchi-Scarrà G, Frebourg T, Joly P, Spatz A, Rubino C, Demenais F, Bressac-de Paillerets B; French Hereditary Melanoma Study Group. Auroy S, et al. Among authors: chompret a. Genes Chromosomes Cancer. 2001 Nov;32(3):195-202. doi: 10.1002/gcc.1183. Genes Chromosomes Cancer. 2001. PMID: 11579459
89 results