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Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary dif...

Oliveira, C; Sousa, S; Pinheiro, H; Karam, R; Bordeira-Carriço, R; Senz, J; Kaurah, P; Carvalho, J; Pereira, R; Gusmão, L; Wen, X; Cipriano, MA

BACKGROUND & AIMS: Hereditary diffuse gastric cancer (HDGC) families carry CDH1 heterozygous germline mutations; their tumors acquire complete CDH1 inactivation through "2nd-hit" mechanisms. Most frequently, this occurs via promoter hypermethylation (epigenetic modification), and less frequently via CDH1 mutations and loss of heterozygosity (LOH). We quantified the different 2nd hits in CDH1 occurring in neopla...


Transferrin receptor 2 (TfR2) and HFE mutational analysis in non‐C282Y iron ove...

MATTMAN, A.; HUNTSMAN, D.; LOCKITCH, G.; LANGLOIS, S.; BUSKARD, N.; RALSTON, D.; BUTTERFIELD, Y.; RODRIGUES, P.; JONES, S.; PORTO, G.; MARRA, M.

Blood. 2002 Aug 1;100(3):1075-7. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, Rodrigues P, Jones S, Porto G, Marra M, De Sousa M, Vatcher G. SourceGenes, Elements, and Metabolism Program, Children and Women's Hospital of British Columbia, Vancouver...


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