Pedigree analysis supports a correlation between an AXIN2 variant and polyposis/colorectal cancer |
| |
Authors: | Amrit Lamba Parth Parekh Chris T Dvorak Jordan J Karlitz |
| |
Affiliation: | Amrit Lamba, Department of Internal Medicine, Tulane University, New Orleans, LA 70112, United StatesParth Parekh, Department of Gastroenterology, Carillion Clinic, Roanoke, VA 24016, United StatesChris T Dvorak, Department of Genetics, Tulane University, New Orleans, LA 70112, United StatesJordan J Karlitz, Department of Gastroenterology, Tulane University, New Orleans, LA 70112, United States |
| |
Abstract: | We present a patient with a history of colonic polyposis and family history significant for colon polyps and colorectal cancer (CRC). The patient and the family also had a history of bone loss of the jaw and early tooth loss, consistent with oligodontia. Genetic testing revealed the patient to have a previously unpublished variant of unknown significance (VUS) in the AXIN2 gene. These clinical findings have been demonstrated previously in only two other families, both of which exhibited oligodontia, colorectal neoplasia (polyps and cancer) and a heterozygous mutation in AXIN2. The AXIN2 protein is component of the Wnt pathway, which is known to be vital for organism development and cellular homeostasis. Alterations of the Wnt pathway lead to cell proliferation and neoplasm, in addition to agenesis of physical structures (such as teeth). The analysis of our pedigree further supports an association between colonic neoplasm (polyposis and CRC), the AXIN2 gene in general, and this particular VUS. It also highlights the importance of analyzing and disseminating information on pedigrees with less commonly encountered genomic abnormalities so that genotypic-phenotypic correlations can be solidified. |
| |
Keywords: | Colonic polyps Colorectal cancer Cancer genetics Cancer syndrome Cell signaling Case report |
|
| 点击此处可从《World Journal of Medical Genetics》浏览原始摘要信息 |
|