Eser Betul, Yıldar Murat
Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, Turkey
Department of General Surgery, Balıkesir University Faculty of Medicine, Balıkesir, Turkey.
J Surg Case Rep. 2015 Sep 28;2015(9):rjv118. doi: 10.1093/jscr/rjv118.
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome leading to colorectal cancer. This disease appears as a result of germline mutation in adenomatous polyposis coli (APC) gene. The aim of the present study is to report the association between two different nucleotide substitutions detected in a family with FAP. In the proband, p.His1172Gln (c.3516delT) was detected in exon 15 of the APC gene. Furthermore, p.His1172Gln (c.3516delT) and, in addition to this mutation, p.Met1413Val (c.4237 A > G) were detected in exon 15 in both daughters of the proband. However, we believe that single nucleotide change in codon 1413 may be a polymorphic variant and deletion T in codon 1172 of APC gene is associated with FAP, attenuated FAP and extracolonic FAP involvement. Along with common use of genetic tests in the clinical practice, genotype-phenotype correlation may be recognized better and useful for early diagnosis and prevention of familial cancer syndromes.
家族性腺瘤性息肉病（FAP）是一种导致结直肠癌的常染色体显性综合征。这种疾病是由腺瘤性息肉病 coli（APC）基因的种系突变引起的。本研究的目的是报告在一个FAP家族中检测到的两种不同核苷酸替代之间的关联。在先证者中，在APC基因的第15外显子中检测到p.His1172Gln（c.3516delT）。此外，在先证者的两个女儿的第15外显子中检测到p.His1172Gln（c.3516delT），并且除了这种突变之外，还检测到p.Met1413Val（c.4237 A>G）。然而，我们认为密码子1413中的单核苷酸变化可能是一种多态性变体，APC基因密码子1172中的T缺失与FAP、轻型FAP和结肠外FAP受累相关。随着基因检测在临床实践中的普遍应用，基因型-表型相关性可能会被更好地认识，并有助于家族性癌症综合征的早期诊断和预防。
