A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report
Squamous cell carcinoma (SCC) is the most common human solid tumor and the leading cause of cancer death. SCC of the breast is a very rare type of cancer that has not been well researched. Early identification of the genetic factors involved can lead to early diagnosis and targeted treatment. The pr...
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| Format: | Article |
| Language: | English |
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Shiraz University of Medical Sciences
2023-07-01
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| Series: | Iranian Journal of Medical Sciences |
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| Online Access: | https://ijms.sums.ac.ir/article_49082_4bea46c3fa9d12be1e85bdcd686f022e.pdf |
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| author | Mina Amin Elaheh Mahmoodi-Khaledi Sina Narrei Mehrdad Zeinalian |
| author_facet | Mina Amin Elaheh Mahmoodi-Khaledi Sina Narrei Mehrdad Zeinalian |
| author_sort | Mina Amin |
| collection | DOAJ |
| description | Squamous cell carcinoma (SCC) is the most common human solid tumor and the leading cause of cancer death. SCC of the breast is a very rare type of cancer that has not been well researched. Early identification of the genetic factors involved can lead to early diagnosis and targeted treatment. The present study was conducted in 2018 at Isfahan University of Medical Sciences (Isfahan, Iran). The proband was a 66-year-old woman with SCC of the breast and a positive family history of cancer. Blood DNA samples were used for whole-exome sequencing to identify germline pathogenic variants. Variant annotation and prioritization were done on variant call format files using bioinformatics software tools. The screened variants were confirmed using the Sanger sequencing method. Co-segregation analysis was performed on the blood DNA samples of the first- and second-degree relatives of the proband to assess the presence of the mutation. A novel germline pathogenic variant was identified in the RECQL4 gene of the family. RECQL4 is a known protein in DNA repair and replication. Considering its effect on other types of SCC, it may play an important role in SCC initiation and progression in the breast. |
| first_indexed | 2024-03-13T00:13:37Z |
| format | Article |
| id | doaj.art-7ccd00b572fc44d4ae042c7e36ed8484 |
| institution | Directory Open Access Journal |
| issn | 0253-0716 1735-3688 |
| language | English |
| last_indexed | 2024-03-13T00:13:37Z |
| publishDate | 2023-07-01 |
| publisher | Shiraz University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Medical Sciences |
| spelling | doaj.art-7ccd00b572fc44d4ae042c7e36ed84842023-07-12T04:19:55ZengShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-07161735-36882023-07-0148442042410.30476/ijms.2022.94539.258749082A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief ReportMina Amin0Elaheh Mahmoodi-Khaledi1Sina Narrei2Mehrdad Zeinalian3Department of Cell and Molecular Biology, School of Chemistry, University of Kashan, Kashan, IranDepartment of Cell and Molecular Biology, School of Chemistry, University of Kashan, Kashan, IranAla Cancer Prevention and Control Center, Isfahan, IranAla Cancer Prevention and Control Center, Isfahan, IranSquamous cell carcinoma (SCC) is the most common human solid tumor and the leading cause of cancer death. SCC of the breast is a very rare type of cancer that has not been well researched. Early identification of the genetic factors involved can lead to early diagnosis and targeted treatment. The present study was conducted in 2018 at Isfahan University of Medical Sciences (Isfahan, Iran). The proband was a 66-year-old woman with SCC of the breast and a positive family history of cancer. Blood DNA samples were used for whole-exome sequencing to identify germline pathogenic variants. Variant annotation and prioritization were done on variant call format files using bioinformatics software tools. The screened variants were confirmed using the Sanger sequencing method. Co-segregation analysis was performed on the blood DNA samples of the first- and second-degree relatives of the proband to assess the presence of the mutation. A novel germline pathogenic variant was identified in the RECQL4 gene of the family. RECQL4 is a known protein in DNA repair and replication. Considering its effect on other types of SCC, it may play an important role in SCC initiation and progression in the breast.https://ijms.sums.ac.ir/article_49082_4bea46c3fa9d12be1e85bdcd686f022e.pdfcancernext generation sequencingwhole exome sequencingcarcinomasquamous cell |
| spellingShingle | Mina Amin Elaheh Mahmoodi-Khaledi Sina Narrei Mehrdad Zeinalian A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report Iranian Journal of Medical Sciences cancer next generation sequencing whole exome sequencing carcinoma squamous cell |
| title | A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report |
| title_full | A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report |
| title_fullStr | A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report |
| title_full_unstemmed | A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report |
| title_short | A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report |
| title_sort | novel germline pathogenic variant of recql4 gene in an iranian pedigree with familial squamous cell carcinoma a brief report |
| topic | cancer next generation sequencing whole exome sequencing carcinoma squamous cell |
| url | https://ijms.sums.ac.ir/article_49082_4bea46c3fa9d12be1e85bdcd686f022e.pdf |
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