Analysis of a cohort of familial ademomatous polyposis patients bearing APC gene mutation

large number of colorectal adenomas with high risk of evolving into colorectal tumors. Mutations of the Adenomatous polyposis coli (APC) gene is often at the origin of this disease, as well as of a high percentage of spontaneous colorectal tumors. APC is therefore considered a tumor suppressor gene. While the role of APC in intestinal epithelium homeostasis is well characterized, its importance in immune responses remains ill defined. We investigated an array of immune cell features in FAP subjects carrying APC mutations. A group of 12 FAP subjects and age and sex-matched healthy controls were studied. In particular, the expression of 579 immune response genes was analyzed in whole blood cells using the Nanostring nCounter Human Immunology kit v2. (Cuche C. et al. Frontiers in Immunology, 2023, in press)

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

2 Datasets 2 Publications

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Dataset ID	Description	Technology	Samples
EGAD00010002553	Expression of immune related genes in 12 familial adenomatous polyposis patients. Expression assessed by analyzing whole blood-derived RNA samples using a Nanostring nCounter Immunology V2 panel (579 genes)	Nanostring nCounter	12
EGAD00010002554	Expression of immune related genes in 12 healthy donors. Expression assessed by analyzing whole blood-derived RNA samples using a Nanostring nCounter Immunology V2 panel (579 genes)	Nanostring nCounter	12

Publications	Citations
The tumor suppressor adenomatous polyposis coli regulates T lymphocyte migration. Mastrogiovanni M, Vargas P, Rose T, Cuche C, Esposito E, Juzans M, Laude H, Schneider A, Bernard M, Goyard S, Renaudat C, Ungeheuer MN, Delon J, Alcover A, Di Bartolo V. Sci Adv 8: 2022 eabl5942	10
T cell migration and effector function differences in familial adenomatous polyposis patients with <i>APC</i> gene mutations. Cuche C, Mastrogiovanni M, Juzans M, Laude H, Ungeheuer MN, Krentzel D, Gariboldi MI, Scott-Algara D, Madec M, Goyard S, Floch C, Chauveau-Le Friec G, Lafaye P, Renaudat C, Le Bidan M, Micallef C, Schmutz S, Mella S, Novault S, Hasan M, Duffy D, Di Bartolo V, Alcover A. Front Immunol 14: 2023 1163466	1

Publications

Citations

The tumor suppressor adenomatous polyposis coli regulates T lymphocyte migration.
Mastrogiovanni M, Vargas P, Rose T, Cuche C, Esposito E, Juzans M, Laude H, Schneider A, Bernard M, Goyard S, Renaudat C, Ungeheuer MN, Delon J, Alcover A, Di Bartolo V. Sci Adv 8: 2022 eabl5942

T cell migration and effector function differences in familial adenomatous polyposis patients with <i>APC</i> gene mutations.
Cuche C, Mastrogiovanni M, Juzans M, Laude H, Ungeheuer MN, Krentzel D, Gariboldi MI, Scott-Algara D, Madec M, Goyard S, Floch C, Chauveau-Le Friec G, Lafaye P, Renaudat C, Le Bidan M, Micallef C, Schmutz S, Mella S, Novault S, Hasan M, Duffy D, Di Bartolo V, Alcover A. Front Immunol 14: 2023 1163466