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A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study
Based on the analysis of patients with Peutz-Jeghers syndrome (PJS), Serine threonine kinase11 (STK11) is known as a tumor suppressor gene, which is involved in cell polarization, regulation of apoptosis, and DNA damage response. In this case report study, we examined STK11 gene sequencing in a 42-y...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Shaheed Beheshti University of Medical Sciences
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10520397/ https://www.ncbi.nlm.nih.gov/pubmed/37767326 http://dx.doi.org/10.22037/ghfbb.v16i2.2751 |
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author | Khanabadi, Binazir Najafgholizadeh Seyfi, Diba Rejali, Leili Taleghani, Mohammad Yaghoob Tavallaei, Mehdi Shahrokh, Shabnam Daskar Abkenar, Elahe Naderi Noukabadi, Fatemeh Asadzadeh Aghdaei, Hamid Nazemalhosseini Mojarad, Ehsan |
author_facet | Khanabadi, Binazir Najafgholizadeh Seyfi, Diba Rejali, Leili Taleghani, Mohammad Yaghoob Tavallaei, Mehdi Shahrokh, Shabnam Daskar Abkenar, Elahe Naderi Noukabadi, Fatemeh Asadzadeh Aghdaei, Hamid Nazemalhosseini Mojarad, Ehsan |
author_sort | Khanabadi, Binazir |
collection | PubMed |
description | Based on the analysis of patients with Peutz-Jeghers syndrome (PJS), Serine threonine kinase11 (STK11) is known as a tumor suppressor gene, which is involved in cell polarization, regulation of apoptosis, and DNA damage response. In this case report study, we examined STK11 gene sequencing in a 42-year-old woman with mucocuta neous pigmentation and positive family history. Endoscopy and colonoscopy showed >1000 polyps throughout the stomach/colon (PJ-type hamartomas). The larger polyp in the stomach was resected and the small bowel imaging detected multiple jejunum/ileum small polyps. The data released from the sequencing results revealed five alterations in exons 1 to 5. The major mutation in stop codon was reported as converted to the amino acid tryptophan (TRP) to tyrosine (TER). The TGG codon was converted to TAG by mutation. Finally, another novel mutation in STK11 stop codon as a ‘de novo’ variant was seen. It is predicted that stop codon mutations make the affected person susceptible to developing colorectal cancer. |
format | Online Article Text |
id | pubmed-10520397 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Shaheed Beheshti University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-105203972023-09-27 A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study Khanabadi, Binazir Najafgholizadeh Seyfi, Diba Rejali, Leili Taleghani, Mohammad Yaghoob Tavallaei, Mehdi Shahrokh, Shabnam Daskar Abkenar, Elahe Naderi Noukabadi, Fatemeh Asadzadeh Aghdaei, Hamid Nazemalhosseini Mojarad, Ehsan Gastroenterol Hepatol Bed Bench Case Report Based on the analysis of patients with Peutz-Jeghers syndrome (PJS), Serine threonine kinase11 (STK11) is known as a tumor suppressor gene, which is involved in cell polarization, regulation of apoptosis, and DNA damage response. In this case report study, we examined STK11 gene sequencing in a 42-year-old woman with mucocuta neous pigmentation and positive family history. Endoscopy and colonoscopy showed >1000 polyps throughout the stomach/colon (PJ-type hamartomas). The larger polyp in the stomach was resected and the small bowel imaging detected multiple jejunum/ileum small polyps. The data released from the sequencing results revealed five alterations in exons 1 to 5. The major mutation in stop codon was reported as converted to the amino acid tryptophan (TRP) to tyrosine (TER). The TGG codon was converted to TAG by mutation. Finally, another novel mutation in STK11 stop codon as a ‘de novo’ variant was seen. It is predicted that stop codon mutations make the affected person susceptible to developing colorectal cancer. Shaheed Beheshti University of Medical Sciences 2023 /pmc/articles/PMC10520397/ /pubmed/37767326 http://dx.doi.org/10.22037/ghfbb.v16i2.2751 Text en © 2023, Gastroenterology and Hepatology From Bed to Bench (GHFBB). https://creativecommons.org/licenses/by-nc/4.0/This is an open-access article, distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (https://creativecommons.org/licenses/by-nc/4.0/) which permits others to copy and redistribute the material just in noncommercial usages, provided the original work is properly cited. |
spellingShingle | Case Report Khanabadi, Binazir Najafgholizadeh Seyfi, Diba Rejali, Leili Taleghani, Mohammad Yaghoob Tavallaei, Mehdi Shahrokh, Shabnam Daskar Abkenar, Elahe Naderi Noukabadi, Fatemeh Asadzadeh Aghdaei, Hamid Nazemalhosseini Mojarad, Ehsan A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study |
title | A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study |
title_full | A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study |
title_fullStr | A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study |
title_full_unstemmed | A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study |
title_short | A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study |
title_sort | novel stop codon mutation in stk11 gene is associated with peutz-jeghers syndrome and elevated cancer risk: a case study |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10520397/ https://www.ncbi.nlm.nih.gov/pubmed/37767326 http://dx.doi.org/10.22037/ghfbb.v16i2.2751 |
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