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Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

Author(s): P. E. Maltese, G. Di Saverio, E. Manara, F. Fanelli, N. Capodicasa, D. Guraj, I. Shehaj, B. Amato, A. Babameto-Laku, S. Michelini , M. Bertelli

Purpose: Familial adenomatous polyposis is an inherited precancerous condition characterized by multiple colorectal polyps. This brief report describes three generations of a family with a history of colorectal cancer in which genetic testing was useful for detecting individuals at risk. Methods: A next generation sequencing custom gene panel comprising 11 genes associated with familial adenomatous polyposis and colorectal cancer was used to screen the proband. Sanger sequencing was used for family segregation study. Results: Genetic testing showed that the proband, her affected sister and asymptomatic son carried the p.(Gln1338*) variant in the APC gene. Conclusion: APC genetic variations are the most frequent cause of familial adenomatous polyposis and are inherited with autosomal dominant transmission. According to the literature, the variation found in this family is associated with the condition and lies in a known mutation cluster region. Pedigree analysis suggested that the proband’s son should be included in a regular surveillance program to monitor for development of the disease and avoid more serious consequences. To our knowledge, this is the first clinical and genetic report of the condition described in an Albanian family.