{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T05:03:57Z","timestamp":1785215037950,"version":"3.55.0"},"reference-count":32,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"1","content-domain":{"domain":["ascopubs.org"],"crossmark-restriction":true},"short-container-title":["JCO Precis Oncol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>PURPOSE<\/jats:title>\n                    <jats:p>\n                      Up to 1% of patients with non\u2013small cell lung cancer harbor germline epidermal growth factor receptor (\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      ) mutations, although they remain poorly described in unselected, noncancer populations. We sought to characterize the prevalence of germline\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      mutations in Southeastern United States.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>\n                      We assessed the prevalence of\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      mutations in unselected cohorts of individuals enrolled in the Duke CATHeterization GENetics, gnomAD, UK Biobank, and\n                      <jats:italic toggle=\"yes\">All of Us<\/jats:italic>\n                      studies. We additionally performed comprehensive chart review for patients evaluated at the Duke Cancer Institute with germline\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>\n                      We found the prevalence of germline\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      T790M to be &gt;1 in 3,000 individuals in the Duke catchment area. This prevalence was 7.5 times greater than the national\n                      <jats:italic toggle=\"yes\">All of Us<\/jats:italic>\n                      cohort, 3.7 times greater than the international gnomAD cohort, and 55.8 times greater than the UK Biobank cohort. The Southeastern region also contained the highest proportion of T790M carriers in the\n                      <jats:italic toggle=\"yes\">All of Us<\/jats:italic>\n                      cohort. Twenty-eight individuals with suspected germline\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      mutations were identified in our institutional cohort. The majority of these patients did not have a history of smoking, had multiple lung nodules at the time of diagnosis, and had a family history of cancer. Forty-five percent of patients had a diagnosis of a second primary malignancy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSION<\/jats:title>\n                    <jats:p>\n                      Our analysis represents the largest study to date assessing the prevalence of germline\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      mutations from both patients with lung cancer and unselected cohorts of individuals and presents evidence for increased prevalence of\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      T790M mutations within the Southeastern United States. Given the high prevalence and documented hereditary risk of germline\n                      <jats:italic toggle=\"yes\">EGFR<\/jats:italic>\n                      mutations, future studies investigating the role of familial testing and screening in these individuals is warranted.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1200\/po-25-00678","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T20:59:13Z","timestamp":1769029153000},"update-policy":"https:\/\/doi.org\/10.1200\/crossmark","source":"Crossref","is-referenced-by-count":1,"title":["Prevalence and Clinical Characteristics of Germline Epidermal Growth Factor Receptor Mutations in the Southeastern United States"],"prefix":"10.1200","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6320-2126","authenticated-orcid":true,"given":"Jenny","family":"O'Brien","sequence":"first","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8666-4841","authenticated-orcid":true,"given":"Ryne C.","family":"Ramaker","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8424-4614","authenticated-orcid":true,"given":"Ashley","family":"Moyer","sequence":"additional","affiliation":[{"name":"Department of Pathology, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7579-1175","authenticated-orcid":true,"given":"John H.","family":"Strickler","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betty C.","family":"Tong","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular and Thoracic Surgery, Department of Surgery, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2183-2319","authenticated-orcid":true,"given":"Megan E.","family":"Ramaker","sequence":"additional","affiliation":[{"name":"Center for Precision Health, Duke Clinical and Translational Science Institute, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svati H.","family":"Shah","sequence":"additional","affiliation":[{"name":"Center for Precision Health, Duke Clinical and Translational Science Institute, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2228-4094","authenticated-orcid":true,"given":"Laura","family":"Alder","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3595-8011","authenticated-orcid":true,"given":"Thomas E.","family":"Stinchcombe","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology, Department of Medicine, Duke University, Durham, NC"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"233","reference":[{"key":"e_1_3_7_2_2","volume-title":"Cancer of Any Site\u2014Cancer Stat Facts","author":"SEER","year":"2025","unstructured":"SEER: Cancer of Any Site\u2014Cancer Stat Facts, 2025. https:\/\/seer.cancer.gov\/statfacts\/html\/all.html."},{"key":"e_1_3_7_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41571-023-00844-0"},{"key":"e_1_3_7_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/msb4100014"},{"key":"e_1_3_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtocrr.2021.100194"},{"key":"e_1_3_7_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1671"},{"key":"e_1_3_7_7_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2012.42.1586"},{"key":"e_1_3_7_8_2","article-title":"Novel EGFR V834L germline mutation associated with familial lung adenocarcinoma","author":"van der Leest C","unstructured":"van der Leest C, Wagner A, Pedrosa RM, et al: Novel EGFR V834L germline mutation associated with familial lung adenocarcinoma. 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