title: Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer.
abstract: The CDKN2A/ARF genes have been associated with increased risk of malignant melanoma (MM) in families with multiple members affected by disease and in families characterized by the constellation of breast cancer and MM. The exact contribution of CDKN2A/ARF to disease risk remains poorly characterized, especially in diverse populations. In this report, the contribution of CDKN2A/ARF germline mutations and large rearrangements to disease in Polish familial MM (FMM) and aggregations of breast cancer and MM were assessed using a strategy that included genomic sequencing, restriction fragment length polymorphism and multiplex ligation-dependent probe amplification. We examined 16 FMM cases (group 1), 44 MM probands with a cancer family aggregation (CFA) that included at least one breast cancer (group 2) and 22 breast cancer probands with CFA and MM (group 3). The results revealed a paucity of mutations in CDKN2A/ARF, suggesting that in the Polish population this gene does not contribute significantly to either FMM or MM within the context of CFA.
authors.affiliation: Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. debniak@wp.pl
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Debniak
authors.forename: Bohdan
authors.initials: B
authors.lastname: Górski
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Medrek
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Zowocka
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Kurzawski
authors.forename: Boguslaw
authors.initials: B
authors.lastname: Debniak
authors.forename: Józef
authors.initials: J
authors.lastname: Kadny
authors.forename: Stanislawa
authors.initials: S
authors.lastname: Bielecka-Grzela
authors.forename: Romuald
authors.initials: R
authors.lastname: Maleszka
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D017353:Gene Deletion; D019942:Genes, p16; D018095:Germ-Line Mutation; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics*; D025803:Tumor Suppressor Protein p14ARF / Q000235:genetics*
chemical_list: D025803:Tumor Suppressor Protein p14ARF