Article
RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.
Oncotarget - 20 Oct 2015
Qi Xiao-Ping, Zhao Jian-Qiang, Chen Zhen-Guang, Cao Jin-Lin, Du Juan, Liu Nai-Fang, Li Feng, Sheng Mao, Fu Er, Guo Jian, Jia Hong, Zhang Yi-Ming, Ma Ju-Ming
Abstract excerpt
There are no reports on the relationship between familial medullary thyroid carcinoma (FMTC) associated with cutaneous amyloidosis (CA) and RET or OSMR/IL31RA gene mutations. In this study, we investigated a Chinese family with FMTC/CA and found a recurrent RET c.2671T>G (p.S891A) mutation in six of 17 family members. Three of the six p.S891A mutation carriers presented with medullary thyroid carcinoma (MTC). Of...
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