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Differential causative effects of germline pathogenic variants in <i>MUTYH</i> and <i>PALB2</i> in a patient with colorectal polyposis and breast cancer

2026-05-25

Abstract excerpt

<h4>Purpose</h4> Patients carrying Germline Pathogenic Variants (GPVs) in multiple cancer susceptibility genes (CSGs) can be described within the context of Multi-locus Inherited Neoplasia Allele Syndrome (MINAS). The role of each GPV is typically interpreted based on clinical phenotypes. Here, we used tumor sequencing, particularly mutational signatures, to investigate the contribution of GPVs in MUTYH and PAL...

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Literature Corpus work
c8295df9-68f2-513f-a11c-a2800c9760e3
DOI
10.64898/2026.05.15.26352890
Open publication

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Differential causative effects of germline pathogenic variants in <i>MUTYH</i> and <i>PALB2</i> in a patient with colorectal polyposis and breast cancerDOI 10.64898/2026.05.15.26352890
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