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PMID: 9590282

Lu SL et al
Nat Genet 1998 May;19(1):17-8
HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

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Refuted by followup studies

Rank: 1

BioMed Crit Comm 2010; 3:2008
Posted: May 20, 2010 CCID: 2008
Commentator: Anonymous	Ave. score of anonymous comments: 2.4 for 548 scored comments.

Although the authors did not find the C944T (amino acid T315M) mutation among 60 healthy controls and 29 patients with sporadic colorectal cancer, a followup study found the variant at similar frequencies in 7 of 492 normal controls and 6 of 228 with sporadic colorectal cancer (PMID: 15235604). To date, no other instances of the mutation have been found in HNPCC.

Key authors in this publication:

Imamura T, Kawabata M, Lu SL, Miyazono K, Nomizu T, Yuasa Y.

View Linked Comments	PMID: 9590282
Lu SL et al Nat Genet 1998 May;19(1):17-8 HNPCC associated with germline mutation in the TGF-beta type II receptor gene.