Article
Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors.
Nature genetics - 1 Nov 2016
Middlebrooks Candace D, Banday A Rouf, Matsuda Konichi, Udquim Krizia-Ivana, Onabajo Olusegun O, Paquin Ashley, Figueroa Jonine D, Zhu Bin, Koutros Stella, Kubo Michiaki, Shuin Taro, Freedman Neal D, Kogevinas Manolis, Malats Nuria, Chanock Stephen J, Garcia-Closas Montserrat, Silverman Debra T, Rothman Nathaniel, Prokunina-Olsson Ludmila
Abstract excerpt
High rates of APOBEC-signature mutations are found in many tumors, but factors affecting this mutation pattern are not well understood. Here we explored the contribution of two common germline variants in the APOBEC3 region. SNP rs1014971 was associated with bladder cancer risk, increased APOBEC3B expression, and enrichment with APOBEC-signature mutations in bladder tumors. In contrast, a 30-kb deletion that...
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