DEFICIÊNCIA INTELECTUAL RELACIONADA À DELEÇÃO INTERSTICIAL DO BRAÇO LONGO DO CROMOSSOMO 5, ABRANGENDO LOCUS SUPRESSOR TUMORAL DO GENE APC (ADENOMATOUS POLYPOSIS COLI), RESULTANDO EM POLIPOSE ADENOMATOSA FAMILIAR ASSOCIADA A TUMOR DESMÓIDE

Autor: Nadia Sclearuc de Siqueira, Simone Reges Perales, Carla Manzoni Salgado

Publikováno v: Hematology, Transfusion and Cell Therapy, Vol 46, Iss , Pp S29-S30 (2024)

Introdução/Justificativa: A polipose adenomatosa familiar (PAF) é uma síndrome hereditária com padrão autossômica dominante com penetrância de quase 100%, caracterizada por múltiplos pólipos no trato gastrointestinal, predispondo ao desenvo

Externí odkaz: https://doaj.org/article/90951bd9f4204f5dbf262bfa280d92e5

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APC (adenomatous polyposis coli)

Autor: J Tirnauer

Publikováno v: Atlas of Genetics and Cytogenetics in Oncology and Haematology.

Review on APC (adenomatous polyposis coli), with data on DNA, on the protein encoded, and where the gene is implicated.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f1a30d2ab25c97089b442ca7870f8c15
https://doi.org/10.4267/2042/38183

Extracolonic cancer risk in Dutch patients with APC (adenomatous polyposis coli)-associated polyposis

Autor: Wouter H. de Vos tot Nederveen Cappel, Zeinab Ghorbanoghli, Hans Morreau, Evelien Dekker, Jan J. Koornstra, Jan-Werner Poley, James C. H. Hardwick, Hans F. A. Vasen, Alexandra M. J. Langers, Ben J.M. Witteman, Fokko M. Nagengast, Barbara A. J. Bastiaansen, Silvia Sanduleanu

Publikováno v: Journal of Medical Genetics, 55, 11-14
Journal of Medical Genetics, 55, 1, pp. 11-14
JOURNAL OF MEDICAL GENETICS, 55(1), 11-14. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 55(1), 11-14
Journal of medical genetics, 55(1), 11-14. BMJ Publishing Group
Journal of Medical Genetics, 55(1), 11-14. BMJ Publishing Group

BackgroundScreening of patients with familial adenomatous polyposis (FAP) have led to a substantial reduction in mortality due to colorectal cancer (CRC). Recent guidelines suggest that surveillance of non-intestinal malignancies should also be consi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b060a8d7201df382bf5f0e586712a56b
https://doi.org/10.1136/jmedgenet-2017-104545

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