Article
A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.
Human mutation - 1 Apr 2014
Bakker Janine L, Thirthagiri Eswary, van Mil Saskia E, Adank Muriel A, Ikeda Hideyuki, Verheul Henk M W, Meijers-Heijboer Hanne, de Winter Johan P, Sharan Shyam K, Waisfisz Quinten
Abstract excerpt
Fanconi anemia (FA) is a rare recessive disorder with chromosomal instability, congenital abnormalities, and a high cancer risk. The breast cancer susceptibility gene BRCA2 (FANCD1) is one of the 16 genes involved in this recessive disease. We have identified a novel mutation of the splice donor site of intron 1 in the noncoding region of BRCA2 in a Japanese FA family. This mutation may account for the FA...
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