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. 2022 Jun 24;13:3607. doi: 10.1038/s41467-022-31199-2

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 4 — a gPALB2 patient. Sequence alignment from the PALB2 locus comparing pre- (top) and post-treatment (bottom) sequence in a responding patient (confirmed PR) with gPALB2-related breast cancer. Germline alteration is shown in red, and upstream acquired somatic deletion is shown in green (upper panel). The secondary mutation is predicted to restore a near full-length PALB2 protein (lower panel). b gBRCA2 patient. Sequence alignment from the BRCA2 locus comparing pre- (top) and post-treatment (bottom) sequence in a patient with gBRCA2-related pancreatic cancer, who experienced clinical benefit (best response SD; 13% shrinkage in target lesions, with improvement in tumor markers and disease-related symptoms), followed by progression. Germline alteration is shown in red, and downstream acquired somatic deletion is shown in green (upper panel). The secondary mutation is predicted to restore a near full-length BRCA2 protein (lower panel).