Article
RAD51C is a susceptibility gene for ovarian cancer.
Human molecular genetics - 15 Aug 2011
Pelttari Liisa M, Heikkinen Tuomas, Thompson Deborah, Kallioniemi Anne, Schleutker Johanna, Holli Kaija, Blomqvist Carl, Aittomäki Kristiina, Bützow Ralf, Nevanlinna Heli
Abstract excerpt
A homozygous mutation in the RAD51C gene was recently found to cause Fanconi anemia-like disorder. Furthermore, six heterozygous deleterious RAD51C mutations were detected in German breast and ovarian cancer families. We screened 277 Finnish familial breast or ovarian cancer patients for RAD51C and identified two recurrent deleterious mutations (c.93delG and c.837+1G>A). These mutations were further genotyped in...
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