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.

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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
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article

P377: Distinct pathways: Exploring rare clinical and genetic presentations in breast cancer associated hereditary cancer syndromes

Salman Kirmani, Yasmin Abdul Rashid, Abida K. Sattar, Fizza Akbar et al.
Genetics in Medicine Open
BRCA gene mutations in cancer
article

P377: Distinct pathways: Exploring rare clinical and genetic presentations in breast cancer associated hereditary cancer syndromes

Salman Kirmani, Yasmin Abdul Rashid, Abida K. Sattar, Fizza Akbar, S.M.H. Kazmi, Aiman Arif, Azmina Tajdin
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
Aga Khan University (TZ)
Good health and well-being
Openalex Percentile: Top 94%
BRCA gene mutations in cancer
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P377: Distinct pathways: Exploring rare clinical and genetic presentations in breast cancer associated hereditary cancer syndromes — Salman Kirmani, Yasmin Abdul Rashid, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS