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Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer

Gastroenterology. 2021-03-01; 
Laia Bonjoch, Sebastià Franch-Expósito, Pilar Garre, Sami Belhadj, Jenifer Muñoz, Coral Arnau-Collell, Marcos Díaz-Gay, Anna Gratacós-Mulleras, Giulia Raimondi, Clara Esteban-Jurado, Yasmin Soares de Lima, Cristina Herrera-Pariente, Miriam Cuatrecasas, Teresa Ocaña, Antoni Castells, Cristina Fillat, Gabriel Capellá, Francesc Balaguer, Trinidad Caldés, Laura Valle, Sergi Castellví-Bel
Products/Services Used Details Operation
… FAF1 ORF (NM_007051) cloned into pcDNA3.1þC-(K)-DYK expression vector (OHu13027D, FLAG-tagged) was purchased from GenScript (Nanjing, China). Antibodies … (ab183045) was from Abcam (Cambridge, UK). THE DYKDDDDK antibody (A00187) was from GenScript

摘要

objective: A significant proportion of colorectal cancer (CRC) cases have familial aggregation but little is known about the genetic factors that contribute to these cases. We performed an exhaustive functional characterization of genetic variants associated with familial CRC. methods: We performed whole-exome sequencing analyses of 75 patients from 40 families with a history of CRC (including early-onset cases) of an unknown germline basis (discovery cohort). We also sequenced specific genes in DNA from an external replication cohort of 473 families, including 488 patients with colorectal tumors that had normal expression of mismatch repair proteins (validation cohort). We disrupted the Fas-associated factor 1... More

关键词

Functional Genomics, Gene Editing, Programmed Cell Death, Wnt Signaling