Last Posted: Jun 11, 2020
- Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.
Bademci Refik et al. Cirugia espanola 2020 Jun
- Short-term and long-term outcomes after preventive surgery in adolescent patients with familial adenomatous polyposis.
Vitellaro Marco et al. Pediatric blood & cancer 2019 Dec e28110
- CLINGEN Actionability Report for Familial Adenomatous Polyposis - APC
ClinGen Actionability Working Group
- Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan.
Yamano Tomoki et al. Cancer science 2016 Nov
- ß-Catenin mutation status and outcomes in sporadic desmoid tumors.
Mullen John T, et al. The oncologist 2013 0 (9) 1043-9
- CTNNB1 45F mutation is a molecular prognosticator of increased postoperative primary desmoid tumor recurrence: an independent, multicenter validation study.
Colombo Chiara, et al. Cancer 2013 10 (20) 3696-702
- Desmoid tumor
From NCATS Genetic and Rare Diseases Information Center
- An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients.
Li Catherine F, et al. Familial cancer 2007 0 (1) 89-95
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.