Making Sense of Missense
Assessing and Incorporating the Functional Impact of Constitutional Genetic Testing
Bibliographic Data
| ID | 15717044 |
|---|---|
| Authors | Meaghann S Weaver (0000-0003-0340-9533, St. Jude Children's Research Hospital, corresponding author) |
| Year | 2025 |
| Volume | 12 |
| Issue | 11 |
| Pages | 1449-1449 |
| Publication date | 2025-10-24 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children12111449 |
| PMID | 41300567 |
| OpenAlex | W4415565345 |
| Language | EN |
| References cited | 4 |
Background/Objectives : With the emergence of accessible and affordable next-generation sequencing platforms, pediatric oncologists are now accountable to diligently ascertain genetic causes of cancer, with an amenable opportunity to test for cancer predisposition syndromes. Methods : This study incorporates triangulated interviews of family members diagnosed with Li-Fraumeni syndrome through clinical TP 53 testing. The interview content was coded using NVivo 10.0 software to determine psychosocial themes relevant to genetic testing, diagnosis, and surveillance. Results : Interview content revealed opportunities to apply social themes analogous to TP53 biologic language. Conclusions : This report models the systematic inclusion of patient, parent, and health care provider perspectives when testing individuals for familial cancer predisposition syndromes
Genetic counseling · Genetic predisposition · Genetic testing · Hereditary Cancer · Inclusion (mineral · Psychosocial · Qualitative research · Test (biology · Legal Systems and Judicial Processes
| Highly cited | No |
|---|