Article: Two Distinct Deleterious Causative Variants in a Family with Multiple Cancer-Affected Patients.
2023 Volume 12, Page(s) 203
Abstract: Background: Only 5 to 10% of cancers are hereditary, but they are particularly important since they can be passed down from generation to generation, and family members are at elevated risk. Although screening methods are one of the essential strategies ...
Abstract | Background: Only 5 to 10% of cancers are hereditary, but they are particularly important since they can be passed down from generation to generation, and family members are at elevated risk. Although screening methods are one of the essential strategies for dealing with hereditary cancers, they do not have high specificity and sensitivity. The emergence of whole-exome sequencing (WES) causes a significant increase in the diagnostic rate of cancer-causing variants in at-risk families. Materials and methods: We performed WES on the proband's DNA sample from an Iranian family with multiple cancer-affected members to identify potential causative variants. Multiple in silico tools were used to evaluate the candidate variants' pathogenicity and their effects on the protein's structure, function, and stability. Moreover, the candidate variants were co-segregated in the family with Sanger sequencing. Results: The WES data analysis identified two pathogenic variants ( Conclusion: Herein, we interestingly identify two distinct deleterious causative variants ( |
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Language | English |
Publishing date | 2023-07-31 |
Publishing country | India |
Document type | Journal Article |
ZDB-ID | 2672524-1 |
ISSN | 2277-9175 |
ISSN | 2277-9175 |
DOI | 10.4103/abr.abr_366_22 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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