Article
Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
Human mutation - 1 Dec 2012
Brewster Brooke L, Rossiello Francesca, French Juliet D, Edwards Stacey L, Wong Ming, Wronski Ania, Whiley Phillip, Waddell Nic, Chen Xiaowei, Bove Betsy, Hopper John L, John Esther M, Andrulis Irene, Daly Mary, Volorio Sara, Bernard Loris, Peissel Bernard, Manoukian Siranoush, Barile Monica, Pizzamiglio Sara, Verderio Paolo, Spurdle Amanda B, Radice Paolo, Godwin Andrew K, Southey Melissa C, Brown Melissa A, Peterlongo Paolo
Abstract excerpt
Mutations in the BRCA1 gene confer a substantial increase in breast cancer risk, yet routine clinical genetic screening is limited to the coding regions and intron-exon boundaries, precluding the identification of mutations in noncoding and untranslated regions (UTR). As 3'UTR mutations can influ...
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