{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Vallera RD"],"funding":["NCATS NIH HHS","NIGMS NIH HHS"],"pagination":["1024108"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9682564"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13"],"pubmed_abstract":["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 <i>CHEK2</i> variant are highlighted whereby possible other genetic drivers were discovered on tumor analysis<i>. CHEK2</i> (also referred to as CHK2) loss of function has been firmly associated with breast cancer development. In this case report, two siblings with a germline <i>CHEK2</i> mutation also had distinct endocrine tumors. Pituitary adenoma and pancreatic neuroendocrine tumor (PNET) was found in the first sibling and pheochromocytoma (PCC) discovered in the second sibling. Although pituitary adenomas, PNETs, and PCC have been associat"],"journal":["Frontiers in endocrinology"],"pubmed_title":["Case report: Two sisters with a germline <i>CHEK2</i> variant and distinct endocrine neoplasias."],"pmcid":["PMC9682564"],"funding_grant_id":["UL1 TR001120","R01 GM114102","UL1 TR002645"],"pubmed_authors":["Ghayee HK","Estrada-Zuniga C","Bishop JA","Vallera RD","Dahia PLM","Ding Y","Mirfakhraee S","Tevosian SG","Tabebi M","Gimm O","Soderkvist P","Alli AA","Hatanpaa KJ"],"additional_accession":[]},"is_claimable":false,"name":"Case report: Two sisters with a germline <i>CHEK2</i> variant and distinct endocrine neoplasias.","description":"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 <i>CHEK2</i> variant are highlighted whereby possible other genetic drivers were discovered on tumor analysis<i>. CHEK2</i> (also referred to as CHK2) loss of function has been firmly associated with breast cancer development. In this case report, two siblings with a germline <i>CHEK2</i> mutation also had distinct endocrine tumors. Pituitary adenoma and pancreatic neuroendocrine tumor (PNET) was found in the first sibling and pheochromocytoma (PCC) discovered in the second sibling. Although pituitary adenomas, PNETs, and PCC have been associat","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-05-18T03:09:43.245Z","creation":"2025-02-19T03:23:26.557Z"},"accession":"S-EPMC9682564","cross_references":{"pubmed":["36440216"],"doi":["10.3389/fendo.2022.1024108"]}}