Article
Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK.
Familial cancer - 1 Jan 2022
Cojocaru E, Gennatas S, Thway K, Fisher C, Smrke A, Strauss D, Hayes A, Smith M, Jones R L, Benson C, McVeigh T P
Abstract excerpt
INTRODUCTION: Desmoid-type fibromatosis (DF) are locally infiltrative, non-metastasizing tumours associated with significant morbidity and mortality if located intra-abdominally, retroperitoneally or in head and neck localisation. They are mostly sporadic, due to somatic CTNNB1 mutations. Alternatively, they can be associated with germline pathogenic variants in APC causing Familial Adenomatous Polyposis (FAP)....
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