@article{f69fe393b8e648d99cb43e79e5d0f1bf,
title = "Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias",
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 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 firmly associated with breast cancer development. In this case report, two siblings with a germline CHEK2 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 associated with NF1 gene mutations, the second sister with a PCC did have proven germline CHEK2 with a pathogenic somatic NF1 mutation. We highlight the clinical point that unless the tumor is sequenced, the real driver mutation that is causing the patient{\textquoteright}s tumor may remain unknown.",
keywords = "CHEK2, germline, NF1, PCC, PNET, somatic, tumor",
author = "Vallera, {Raphaelle D.} and Yanli Ding and Hatanpaa, {Kimmo J.} and Bishop, {Justin A.} and Sasan Mirfakhraee and Alli, {Abdel A.} and Tevosian, {Sergei G.} and Mouna Tabebi and Oliver Gimm and Peter S{\"o}derkvist and Cynthia Estrada-Zuniga and Dahia, {Patricia L.M.} and Ghayee, {Hans K.}",
note = "Funding Information: The authors thank the patients and their families. Also, the authors acknowledge Emmanuel Esquivel for his technical assistance with genotyping from the University of Texas Health Science Center at San Antonio. PLMD is supported by NIGMS GM114102, CTSA-IIMS (NIH/NCATS Grant UL1 TR001120 and UL1 TR002645), the Mays Cancer Center NIH-NCI P30 CA54174 and Alex{\textquoteright}s Lemonade Stand Foundation (co-funded by Northwest Mutual/Flashes of Hope). HKG is supported by the Gatorade Trust through funds distributed by the University of Florida, Department of Medicine, and Pilot Funding Initiative of the North Florida/South Georgia (NF/SG) VA HS Research Service. Publisher Copyright: Copyright {\textcopyright} 2022 Vallera, Ding, Hatanpaa, Bishop, Mirfakhraee, Alli, Tevosian, Tabebi, Gimm, S{\"o}derkvist, Estrada-Zuniga, Dahia and Ghayee.",
year = "2022",
month = nov,
day = "7",
doi = "10.3389/fendo.2022.1024108",
language = "English (US)",
volume = "13",
journal = "Frontiers in Endocrinology",
issn = "1664-2392",
publisher = "Frontiers Media S. A.",
}