SMARCA4 pathogenic variants: Gynecological cancer histories from a laboratory tested cohort
Our data support the inclusion of SMARCA4 in genetic testing for hereditary early-onset ovarian cancer, enumerate the ages of SCCOHT diagnosis, and highlight the need for prospective penetrance studies to improve counseling and management for patients and their families.
Authors
- Linda M. Polfus (ORCID: https://orcid.org/0000-0003-1123-2117)
- Brittany A. Borden (ORCID: https://orcid.org/0009-0004-2439-1525)
- Colin C. Young (ORCID: https://orcid.org/0000-0002-9385-8262)
- Miki Horiguchi (ORCID: https://orcid.org/0000-0002-9800-1954)
- Brittany Bychkovsky (ORCID: https://orcid.org/0000-0001-7969-0603)
- Carolyn Horton (ORCID: https://orcid.org/0000-0001-5186-6208)
- Jamie Weyandt
- Jessica D. St. Laurent (ORCID: https://orcid.org/0000-0002-9422-8713)
- Huma Rana (ORCID: https://orcid.org/0000-0001-8749-3618)
- Magan Trottier
- Adela Rodriguez-Hernandez
- Judy E. Garber
Institutions
- Dana-Farber Cancer Institute (US)
- Cancer Genetics (United States) (US)
- Ambry Genetics (United States) (US)
Publication Details
- Journal
- Gynecologic Oncology
- Published
- 2025-10-13
- DOI
- https://doi.org/10.1016/j.ygyno.2025.10.001
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00