P377: Distinct pathways: Exploring rare clinical and genetic presentations in breast cancer associated hereditary cancer syndromes
Hereditary cancer syndromes in patients present at an earlier age and require tailored treatment and management that is usually different from non-hereditary cancers. While there are some well-established genes that predispose to certain cancers and have common presentations supported by clinical guidelines for surveillance and risk management, unique presentations are also observed regularly in clinical practice. This is a result of increasing accessibility to cost effective Next Generation Sequencing (NGS) technologies; thus, these observations necessitate reporting and sharing with the clinical and scientific communities.
Authors
- Salman Kirmani (ORCID: https://orcid.org/0000-0003-2039-5233)
- Yasmin Abdul Rashid (ORCID: https://orcid.org/0000-0003-0122-2978)
- Abida K. Sattar (ORCID: https://orcid.org/0000-0002-9836-7825)
- Fizza Akbar (ORCID: https://orcid.org/0000-0003-4613-7822)
- S.M.H. Kazmi (ORCID: https://orcid.org/0000-0001-6591-2965)
- Aiman Arif
- Azmina Tajdin
Institutions
- Aga Khan University (TZ)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102342
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00