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Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias

7 Nov 2022

Abstract excerpt

Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic testing results for making clinical decisions. Cases of two sisters carrying a germline CHEK2 variant are highlighted whereby possible other genetic drivers were discovered on tumor analysis . CHEK2 (also referred to as CHK2) loss of function has been...

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PMID: 36440216
DOI: 10.3389/fendo.2022.1024108

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