Article

Clinical syndromes linked to biallelic germline variants in<i>MCM8</i>and<i>MCM9</i>

2024-11-04

Abstract excerpt

<h4>Background</h4> MCM8 and MCM9 are newly proposed cancer predisposition genes, linked to polyposis and early-onset cancer, in addition to their association with hypogonadism. Given the uncertain range of phenotypic manifestations and unclear cancer risk estimates, this study aimed to delineate the molecular and clinical characteristics of individuals with biallelic germline MCM8 / MCM9 variants. <h4>Methods</h4...

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Literature Corpus work: 260fa227-771c-5055-a0a5-53fb2148f98f
DOI: 10.1101/2024.10.30.24315828

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