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This research aims to assess the prevalence of germline EGFR mutations in lung cancer patients and the general population.

January 24, 20261 citations

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Prevalence and Clinical Characteristics of Germline Epidermal Growth Factor Receptor Mutations in the Southeastern Unites States.

JOJenny A. O'BrienDuke Medical Center RRRyne C. RamakerDuke University AMAshley MoyerDuke University

Key Points

This research aims to assess the prevalence of germline EGFR mutations in lung cancer patients and the general population.
Conducted the largest study to date on germline EGFR mutations
Included both lung cancer patients and unselected cohorts
Analyzed the prevalence of T790M mutations specifically
Identified increased prevalence of EGFR T790M mutations in the Southeastern United States
Documented significant hereditary risk associated with germline EGFR mutations

Abstract

Our analysis represents the largest study to date assessing the prevalence of germline EGFR mutations from both patients with lung cancer and unselected cohorts of individuals and presents evidence for increased prevalence of EGFR T790M mutations within the Southeastern United States. Given the high prevalence and documented hereditary risk of germline EGFR mutations, future studies investigating the role of familial testing and screening in these individuals is warranted.

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Prevalence and Clinical Characteristics of Germline Epidermal Growth Factor Receptor Mutations in the Southeastern Unites States.

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Abstract

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