Ontology highlight
ABSTRACT:
SUBMITTER: Cerasuolo A
PROVIDER: S-EPMC7391832 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Cerasuolo Andrea A Miele Erasmo E Russo Marina M Aversano Antonietta A Cammarota Francesca F Duraturo Francesca F Liccardo Raffaella R Izzo Paola P Rosa Marina De M
Molecular and clinical oncology 20200713 3
Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary precancerous condition caused by germline pathogenetic variants in the tumor suppressor adenomatous polyposis coli (<i>APC</i>) gene. Patients with FAP develop multiple gastrointestinal adenomatous polyps usually at the age of ~20 years, which, if untreated, become cancerous in 100% of cases. Genotype-phenotype associations have been extensively described; however, inter- and intra-familial variability exists. It is crucial ...[more]