Article
A recurrent mutation in PARK2 is associated with familial lung cancer.
American journal of human genetics - 5 Feb 2015
Xiong Donghai, Wang Yian, Kupert Elena, Simpson Claire, Pinney Susan M, Gaba Colette R, Mandal Diptasri, Schwartz Ann G, Yang Ping, de Andrade Mariza, Pikielny Claudio, Byun Jinyoung, Li Yafang, Stambolian Dwight, Spitz Margaret R, Liu Yanhong, Amos Christopher I, Bailey-Wilson Joan E, Anderson Marshall, You Ming
Abstract excerpt
PARK2, a gene associated with Parkinson disease, is a tumor suppressor in human malignancies. Here, we show that c.823C>T (p.Arg275Trp), a germline mutation in PARK2, is present in a family with eight cases of lung cancer. The resulting amino acid change, p.Arg275Trp, is located in the highly con...
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