Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability
Abstract Pathogenic variants in the BRCA1 and BRCA2 genes are associated with increased risk for breast and ovarian cancers. Concurrent mutations in both genes in the same individual are rare but pose specific challenges when identified, usually through multigene panel testing or infrequently from a...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-08-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6202 |
| _version_ | 1811183136361414656 |
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| author | Arash Algouneh Michelle Caudle Tugce Balci Andrea Andrade Debbie Penava Maha Saleh |
| author_facet | Arash Algouneh Michelle Caudle Tugce Balci Andrea Andrade Debbie Penava Maha Saleh |
| author_sort | Arash Algouneh |
| collection | DOAJ |
| description | Abstract Pathogenic variants in the BRCA1 and BRCA2 genes are associated with increased risk for breast and ovarian cancers. Concurrent mutations in both genes in the same individual are rare but pose specific challenges when identified, usually through multigene panel testing or infrequently from a genome‐wide analysis, such as whole‐exome sequencing (WES). We present a 15‐year‐old female patient with syndromic intellectual disability whose exome reanalysis identified secondary findings of pathogenic BRCA1 and BRCA2 variants, both inherited paternally. We discuss the significant challenges posed by this finding in genetic counseling and cancer risk management of an adolescent with nonverbal intellectual disability, as well as the impact on their family. This rare case highlights the potential increased diagnostic yield of whole exome sequencing reanalysis and the consequences of secondary medically actionable results in a pediatric patient. |
| first_indexed | 2024-04-11T09:41:41Z |
| format | Article |
| id | doaj.art-0d26aef6851043cdb90ec6a90f24f13d |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-11T09:41:41Z |
| publishDate | 2022-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-0d26aef6851043cdb90ec6a90f24f13d2022-12-22T04:31:10ZengWileyClinical Case Reports2050-09042022-08-01108n/an/a10.1002/ccr3.6202Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disabilityArash Algouneh0Michelle Caudle1Tugce Balci2Andrea Andrade3Debbie Penava4Maha Saleh5Schulich School of Medicine Western University London Ontario CanadaDivision of Clinical Genetics, Department of Pediatrics London Health Sciences Centre London Ontario CanadaSchulich School of Medicine Western University London Ontario CanadaSchulich School of Medicine Western University London Ontario CanadaSchulich School of Medicine Western University London Ontario CanadaSchulich School of Medicine Western University London Ontario CanadaAbstract Pathogenic variants in the BRCA1 and BRCA2 genes are associated with increased risk for breast and ovarian cancers. Concurrent mutations in both genes in the same individual are rare but pose specific challenges when identified, usually through multigene panel testing or infrequently from a genome‐wide analysis, such as whole‐exome sequencing (WES). We present a 15‐year‐old female patient with syndromic intellectual disability whose exome reanalysis identified secondary findings of pathogenic BRCA1 and BRCA2 variants, both inherited paternally. We discuss the significant challenges posed by this finding in genetic counseling and cancer risk management of an adolescent with nonverbal intellectual disability, as well as the impact on their family. This rare case highlights the potential increased diagnostic yield of whole exome sequencing reanalysis and the consequences of secondary medically actionable results in a pediatric patient.https://doi.org/10.1002/ccr3.6202early detection of cancergynecology medical geneticsincidental findingsintellectual disabilitypediatricsprevention & Control |
| spellingShingle | Arash Algouneh Michelle Caudle Tugce Balci Andrea Andrade Debbie Penava Maha Saleh Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability Clinical Case Reports early detection of cancer gynecology medical genetics incidental findings intellectual disability pediatrics prevention & Control |
| title | Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability |
| title_full | Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability |
| title_fullStr | Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability |
| title_full_unstemmed | Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability |
| title_short | Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability |
| title_sort | dual brca1 and brca2 pathogenic variants in an adolescent with syndromic intellectual disability |
| topic | early detection of cancer gynecology medical genetics incidental findings intellectual disability pediatrics prevention & Control |
| url | https://doi.org/10.1002/ccr3.6202 |
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