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EGFR gene

Associated Syndrome Name: EGFR-associated Cancer Risk

EGFR Summary Cancer Risk Table

Cancer	Genetic Cancer Risk
Lung	Elevated Risk

EGFR gene Overview

EGFR-associated Cancer Risk 1, 2, 3, 4

Individuals with the EGFR mutation found in this patient have an increased risk for lung cancer (non-small cell lung cancer, NSCLC). The exact risk is not known, but seems to be significantly increased over lung cancer risk in the general population.
The lung cancer risk appears to be higher in women than in men.
Although smoking is the most important risk factor for lung cancer in the general population, studies have found that men and women with this EGFR mutation have a high risk for lung cancer even if they do not smoke. Some studies have even found that the risk for individuals with this EGFR mutation could be higher in non-smokers compared to smokers.
Although there is an increased risk for lung cancer in individuals with this EGFR mutation, there may be interventions that can reduce this risk. Since information about EGFR mutations and lung cancer risk is new, and there is uncertainty about the best way to reduce the risk, it may be appropriate to interpret these results in consultation with lung cancer specialists and cancer genetics professionals who have expertise in this emerging area of knowledge.

EGFR gene Cancer Risk Table

Cancer Type	Age Range	Cancer Risk	Risk for General Population
Lung	To age 803, 4, 5	Elevated risk	4.3%

EGFR Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type	Procedure	Age to Begin	Frequency (Unless otherwise indicated by findings)
Lung	Currently there are no specific medical management guidelines for lung cancer risk in mutation carriers. However, the increased risk may warrant consideration of individualized screening with low dose chest CT scans, as has been considered for individuals at increased risk due to smoking.2	NA	NA
For Patients With A Cancer Diagnosis	For patients with a diagnosis of lung cancer, the presence of this EGFR gene mutation may impact decisions about the choice of drugs for therapy.1	NA	NA

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the EGFR gene.

This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.

Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.

References

Ettinger DS et al. NCCN Clinical Practice Guidelines in Oncology^®: Non-Small Cell Lung Cancer. V 5.2021. June 15. Available at https://www.nccn.org.

Wood DE et al. NCCN Clinical Practice Guidelines in Oncology^®: Lung Cancer Screening. V.1.2021. Dec 17. Available at https://www.nccn.org.

Gazdar A, et al. Hereditary lung cancer syndrome targets never smokers with germline EGFR gene T790M mutations. J Thorac Oncol. 2014 9:456-63. PMID: 24736066.

Yamamoto H, Inherited lung cancer syndromes targeting never smokers. Transl Lung Cancer Res. 2018 7:498-504. PMID: 30225213.

SEER*Explorer: An interactive website for SEER cancer statistics [Internet]. Surveillance Research Program, National Cancer Institute. [Cited 2020 Sep 14]. Available from https://seer.cancer.gov/explorer/.

Last Updated on 29-Sep-2022

Gene Results