Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients

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• 作者：Qing Liu^a ; Luke B. Hesson^a ; Andrea C. Nunez^a ; Deborah Packham^a ; Nicholas J. Hawkins^b ; ^c ; Robyn L. Ward^a ; ^d ; ^{r.ward@uq.edu.au} ; Mathew A. Sloane^a ; ^{m.sloane@unsw.edu.au}
• 关键词：Lynch syndrome ; Lynch-like syndrome ; DNA mismatch repair ; MCM9 ; helicase
• 刊名：Cancer Genetics
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：209
• 期：11
• 页码：497-500
• 全文大小：236 K
• 卷排序：209

文摘

First screen of MCM9 for germline variants in Lynch-like syndrome patients. Variants included 6 common SNPs and 9 variants of unknown significance. Variants in MCM9 are unlikely to explain most cases of Lynch-like syndrome.