Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism
LAFVs were infrequently detected in MGPT, representing 0.8% of the total variants and 0.1% of total tested. Ancillary testing is needed to understand the origins and clinical implications of LAFVs in patients and families.
Authors
- Linda M. Polfus (ORCID: https://orcid.org/0000-0003-1123-2117)
- Judy Ellen Garber (ORCID: https://orcid.org/0000-0001-9449-3982)
- Bárbara Adamo (ORCID: https://orcid.org/0000-0001-7129-8156)
- Beth Souders
- A. Rodríguez (ORCID: https://orcid.org/0000-0002-4899-6607)
- Brittany Bychkovsky (ORCID: https://orcid.org/0000-0001-7969-0603)
- Carolyn Horton (ORCID: https://orcid.org/0000-0001-5186-6208)
- Huma Q. Rana (ORCID: https://orcid.org/0000-0002-1598-6752)
- Aleix Prat (ORCID: https://orcid.org/0000-0003-2377-540X)
Institutions
- Harvard University (US)
- Departament de Salut (ES)
- Hospital Clínic de Barcelona (ES)
- Dana-Farber Cancer Institute (US)
- Ambry Genetics (United States) (US)
- Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES)
Publication Details
- Journal
- Clinical Cancer Research
- Published
- 2025-04-21
- DOI
- https://doi.org/10.1158/1078-0432.ccr-24-4105
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63