alexa Novel Germline Mutation (Q1260X) in APC Gene Causes Familial Adenomatous Polyposis in a Ukrainian Family | OMICS International | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Letter to Editor

Novel Germline Mutation (Q1260X) in APC Gene Causes Familial Adenomatous Polyposis in a Ukrainian Family

Luciana Russo1#, Rosa Anna Cifarelli2#, Beatrice Di Venere3, Alessandro Sgambato4, Marina Susi1, Alberto Fragasso1* and Oronzo Scarciolla5

1U.O. Oncoematologia, Ospedale “Madonna delle Grazie”, Matera, Italy

2Centro ricerche e diagnosi X-life, Azienda Sanitaria Locale, ARPAB, Matera, Italy

3U.O. Chirurgia Generale, Ospedale “Madonna delle Grazie”, Matera, Italy

4Istituto di Patologia, Università Cattolica del Sacro Cuore, Roma, Italyq

5U.O. Genetica Medica, Ospedale “Madonna delle Grazie”, Matera, Italy

#These authors contributed equally to this work

*Corresponding Author:
Alberto Fragasso
Ospedale Madonna delle Grazie, U.O. Oncoematologia
Contrada Cattedra Ambulante s.n.c., 75100 Matera, Italy
Tel: +39 0835/253858
Fax: +39 0835/253435
E-mail: [email protected]

Received date: August 28, 2013; Accepted date:November 11, 2013; Published date: November 21, 2013

Citation: Russo L, Cifarelli RA, Venere BD, Sgambato A, Susi M, et al. (2013) Novel Germline Mutation (Q1260X) in APC Gene Causes Familial Adenomatous Polyposis in a Ukrainian Family. J Genet Syndr Gene Ther 4:197. doi:10.4172/2157-7412.1000197

Copyright: © 2013 Russo L, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Colorectal Cancer (CRC) in developed countries is the major causes of cancer death. It may have sporadic or hereditary origin. Familial Adenomatous Polyposis (FAP) is a very frequent hereditary syndromes predisposing to Colorectal Cancer and is characterized by the development of numerous precancerous polyps (from hundreds to thousands) in the second decade of life.

Classical FAP is caused by germline mutations in the APC gene (Adenomatous Polyposis Coli) a tumor suppressor gene. Often the results of the genetic mutation are a truncating protein that lacks functional domains, such losing its function and promoting tumorigenesis.

A subject who presents a monoallelic germline variation in APC gene inherits in a dominant manner the predisposition to polyps, which will turn in CRC, through the occurrence of a somatic alteration in the wild-type copy of gene. Molecular analyses of APC gene confirms diagnosis in FAP patients and allow to detect the specific pathological mutation in order to screen the unaffected members of the same family, identify pre-symptomatic highrisk subjects and insert them in endoscopic surveillance protocols. We analyzed the APC mutational status in a Ukrainian woman with a history of CRC and proctocolectomy. By direct sequencing of the encoding exons of APC gene we found a c.3778 C>T heterozygous substitution which causes the substitution of a Glutamine with a stop codon, resulting in a premature truncation of APC protein (Q1260X). This mutation had never been described before and it may be considered as a “novel mutation”. We extended the analyses to 1st grade related, proving that one of the patient’s son was heterozygous for the same mutation and that to the endoscopic evaluation he showed an early develop of hundreds of polyps. This finding confirmed our speculation about the pathologic effect of Q1260X.


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