Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients
详细信息 查看全文
- 作者：Amy L. Massona ; b ; Bente A. Talseth-Palmera ; b ; Tiffany-Jane Evansa ; b ; Patrick McElduffc ; d ; Allan D. Spigelmane ; f ; g ; Garry N. Hannanh ; Rodney J. Scotta ; b ; i ; Rodney.Scott@newcastle.edu.au" class="auth_mail" title="E-mail the corresponding author
- 关键词：ALL ; acute lymphoblastic leukaemia ; BH ; Bengamini and Hochberg ; CHAS ; Chromosome Analysis Suite ; CN ; copy number ; CNV ; copy number variation ; COSMIC ; Catalogue of Somatic Mutations in Cancer ; CRC ; colorectal cancer ; DGV ; Database of genomic variants ; DNA ; deoxyribose nucleic acid ; FAP ; familial adenomatous polyposis ; HMDD ; human microRNA disease database ; Kb ; kilobase ; KEGG ; Kyoto Encyclopaedia of Genes and Genomes ; lncRNA ; link RNA ; LOH ; loss of heterozygosity ; mapd ; median absolute pairwise di
- 刊名：Meta Gene
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：7
- 期：Complete
- 页码：95-104
- 全文大小：751 K
文摘
- •
Catalogue of 139 CNVs unique to the polyposis patients which represent candidates for involvement in their disease
- •
Identification of CNVs in four unrelated polyposis patients in APC, DCC, MLH1 and CTNNB1 which are likely to be associated with disease in affected individuals
- •
A recurrent deletion at 18p11.32 was identified that affected 9% of the polyposis patients which harbours a lncRNA