Abstract:
:CDKN2A is the most common, most penetrant gene whom germline mutations predisposing to cutaneous familial melanoma (FAM). Multiple primary melanoma (MPM), early age at onset, >2 affected members and pancreatic cancer are consistent features predicting positive test. However, the impact that cumulative clinical features have on the likelihood of molecular testing is unknown. In this work, genotype-phenotype correlations focused on selected clinical features were performed in 100 Italian FAM unrelated patients. Molecular studies of CDKN2A mutations were performed by direct sequencing. Statistical study included multiple correspondence analysis, uni- and multivariate analyses, and individual patient's probability calculation. MPM, >2 affected family members, Breslow thickness >0.4mm, and age at onset ≤41 years were the unique independent features predicting positive CDKN2A screening. The rate of positive testing ranged from 93.2% in the presence of all of them, to 0.4% in their absence. The contribution of each of them was quantified accordingly, with MPM being the most significant. These findings confirm previous data and add novel insights for the role of accurate patients' selection in CDKN2A screening.
journal_name
Cancer Epidemioljournal_title
Cancer epidemiologyauthors
Pedace L,De Simone P,Castori M,Sperduti I,Silipo V,Eibenschutz L,De Bernardo C,Buccini P,Moscarella E,Panetta C,Ferrari A,Grammatico P,Catricalà Cdoi
10.1016/j.canep.2011.07.007subject
Has Abstractpub_date
2011-12-01 00:00:00pages
e116-20issue
6eissn
1877-7821issn
1877-783Xpii
S1877-7821(11)00120-2journal_volume
35pub_type
杂志文章abstract::Nibrin and DNA repair protein XRCC3 are involved in DNA double-strand break repair. We genotyped seven tagging SNPs in these genes (rs1805794, rs709816; rs1063054; rs7141928, rs1799794, rs861530, rs861539) with the aim to analyse their association with acute lymphoblastic leukaemia (ALL), a disease, that is characteri...
journal_title:Cancer epidemiology
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journal_title:Cancer epidemiology
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pub_type: 历史文章,杂志文章
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Cancer epidemiology
pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 历史文章,杂志文章
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pub_type: 杂志文章
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journal_title:Cancer epidemiology
pub_type: 杂志文章
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更新日期:2010-04-01 00:00:00
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journal_title:Cancer epidemiology
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journal_title:Cancer epidemiology
pub_type: 杂志文章
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journal_title:Cancer epidemiology
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journal_title:Cancer epidemiology
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