Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer
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2018, Seminars in Diagnostic PathologyCitation Excerpt :Remarkably, whole gene deletions also cause classical rather than severe FAP.104 Patients with mutations near the 5′ and 3′end of APC and alternatively spliced regions in exon 9 usually develop AFAP.104–112 FAP Patients with thyroid cancer show mutations throughout the APC gene, but all cause absence or truncation of the β-catenin binding site consisting of 20-amino acid repeats (20-AARs) in the germline and somatic mutated allele.113
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