Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases
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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/345620"], "description"=>"<div><p>Breast cancer can be caused by germline mutations in several genes that are responsible for different hereditary cancer syndromes. Some of the genes causing the Fanconi anemia (FA) syndrome, such as <em>BRCA2</em>, <em>BRIP1</em>, <em>PALB2</em>, and <em>RAD51C</em>, are associated with high or moderate risk of developing breast cancer. Very recently, <em>SLX4</em> has been established as a new FA gene raising the question of its implication in breast cancer risk. This study aimed at answering this question sequencing the entire coding region of <em>SLX4</em> in 526 familial breast cancer cases from Italy. We found 81 different germline variants and none of these were clearly pathogenic. The statistical power of our sample size allows concluding that in Italy the frequency of carriers of truncating mutations of <em>SLX4</em> may not exceed 0.6%. Our results indicate that testing for <em>SLX4</em> germline mutations is unlikely to be relevant for the identification of individuals at risk of breast cancer, at least in the Italian population.</p> </div>", "links"=>[], "tags"=>["sequencing", "italian", "familial", "cancer", "cases"], "article_id"=>128314, "categories"=>["Cancer", "Genetics", "Biotechnology"], "users"=>["Irene Catucci", "Mara Colombo", "Paolo Verderio", "Loris Bernard", "Filomena Ficarazzi", "Frederique Mariette", "Monica Barile", "Bernard Peissel", "Elisa Cattaneo", "Siranoush Manoukian", "Paolo Radice", "Paolo Peterlongo"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0031038", "stats"=>{"downloads"=>2, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Sequencing_Analysis_of_SLX4_FANCP_Gene_in_Italian_Familial_Breast_Cancer_Cases/128314", "title"=>"Sequencing Analysis of <em>SLX4/FANCP</em> Gene in Italian Familial Breast Cancer Cases", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-02-23 02:18:34"}

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Relative Metric

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