title: Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland.
abstract: In this report the contribution of CDKN2A/ARF germline mutations to early-onset cancers of the breast, pancreas and malignant melanoma was examined. We screened 66 women with breast cancer diagnosed at age 30 and below, 72 melanoma patients with the median age at diagnosis < or = 40 years and 51 pancreatic cancer patients diagnosed under the age of 50 years. In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c > g), a novel intronic change IVS1+36 g>c and two common variants A148T and IVS3+29 c>g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma.
authors: Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul. Polabska 4, 70-115 Szczecin, Poland. debniak@wp.pl
authors: Tadeusz
authors: T
authors: Debniak
authors: Thierry
authors: T
authors: van de Wetering
authors: Rodney
authors: R
authors: Scott
authors: Leszek
authors: L
authors: Nagay
authors: Cezary
authors: C
authors: Cybulski
authors: Bohdan
authors: B
authors: Górski
authors: Anna
authors: A
authors: Jakubowska
authors: Jacek
authors: J
authors: Gronwald
authors: Bartłomiej
authors: B
authors: Masojć
authors: Tomasz
authors: T
authors: Huzarski
authors: Tomasz
authors: T
authors: Byrski
authors: Katarzyna
authors: K
authors: Nej-Wołosiak
authors: Józef
authors: J
authors: Kładny
authors: Romuald
authors: R
authors: Maleszka
authors: Jan
authors: J
authors: Lubinski
mesh_terms: D000328:Adult; D017668:Age of Onset; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D019942:Genes, p16; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000453:epidemiology / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence