welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Different Phenotype Manifestation of Familial Adenomatous Polyposis in Families with APC Mutation at Codon 1309
source: Neoplasma
year: 2009
authors: Wachsmannova-Matelova L, Stevurkova V, Adamcikova Z, Holec V, Zajac V
summary/abstract:Germline mutation in APC gene induced development of familial adenomatous polyposis (FAP). The risk of developing specific manifestation of FAP is often correlated with the position of the inherited APC mutation. Patients with mutations localized in the largest exon 15 between codons 1286 and 1513 (mutation cluster region, MCR) have generally a worse prognosis with early onset of the disease. We found 6 FAP families with mutation at codon 1309 (3927_3931delAAAGA) in the cohort of 39 FAP Slovak families with rapid cancer progress. In addition, mutation in codon 1309 was detected in three family members, one of them with a very different phenotype. This oldest family member, aged 81, has persisted asymptomatic without clinical manifestations.
organisation: Slovak Academy of Sciencesread more full text source
expertly curated content related to this topic
-
Familial Adenomatous Polyposis (FAP) – Macmillan Cancer SupportFAP is a condition that can run in famil...
-
Mutation Analysis of the APC Gene in Unrelated Korean Patients with FAP: Four Novel Mutations with Unusual PhenotypeGermline mutations within the adenomatou...
-
Jejunal Cancer in Patients With Familial Adenomatous PolyposisBACKGROUND & AIMS: Familial adenoma...
-
A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis PatientsThe purpose of this study is to determin...
-
Eviendep Reduces Number and Size of Duodenal Polyps in Familial Adenomatous Polyposis Patients With Ileal Pouch-Anal...AIM: To evaluate if 3 mo oral supplemen...
-
Colon Cancer and Polyphttps://ehumanbiofield.wikispaces.com/fi...
-
Familial Risk and Heritability of Cancer Is Higher Among TwinsTwins carry a significant excess familia...