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. 2022 Dec 7;12:938561. doi: 10.3389/fonc.2022.938561

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Copyright © 2022 van der Merwe, Ntaita, Stofberg, Combrink, Oosthuizen and Kotze

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Pathology-supported genetic testing algorithm extending from BRCA1/2 founder variant testing to whole exome/genome sequencing (WES/WGS) in unresolved cases following targeted multigene panel testing. BRCA Expanded gene panel gene panel is used in BRCA1/2 founder variant-negative cases with a high familial risk profile based on early age at diagnosis and/or a strong family history of cancer. Clinical assessments such as body mass index (BMI) and relevant biochemical testing may be considered in genetically uncharacterised cases to assist with lifestyle-triggered and therapy-associated risk stratification (Modified with permission from Mampunye et al. (16).