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Hereditary Lung Cancer Risk: Recent Discoveries and Implications for Genetic Counseling and Testing

  • Genetic Counseling and Clinical Testing (B LeRoy and N Callanan, Section Editors)
  • Published:
Current Genetic Medicine Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Most lung cancer risk is attributed to environmental factors such as cigarette smoke. Family history also impacts lung cancer risk and as smoking rates decrease, the importance of understanding hereditary risk factors will increase. The goal of this paper is to review recent literature on germline variants that affect lung cancer risk, particularly in non-smokers.

Recent Findings

Germline EGFR T790M mutations have been identified in several families with a high density of lung cancer. Individuals with EGFR T790M appear to be predisposed to multifocal lung cancer and ground glass opacities. Other variants in EGFR (V769M, R776H, V843I), HER2 (G660D), and YAP1 (R331W) have also been identified in families with striking lung cancer histories.

Summary

Several case reports have identified germline mutations in oncogenes as candidate high-risk lung cancer alleles. There are likely other germline lung cancer risk variants that have yet to be described. There are currently limited clinical testing options for these variants and limited guidance for medical management of carriers. More research with larger cohorts is needed to better understand hereditary lung cancer risks.

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance.

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Authors and Affiliations

  1. Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, 02215, USA

    Diane R. Koeller, Ruthia Chen & Geoffrey R. Oxnard

Authors
  1. Diane R. Koeller
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  2. Ruthia Chen
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  3. Geoffrey R. Oxnard
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Corresponding author

Correspondence to Diane R. Koeller.

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Conflict of Interest

Geoffrey R. Oxnard reports personal fees from AstraZeneca, Guardant, Inivata, and GRAIL, outside of the submitted work. Other authors have no conflicts of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Genetic Counseling and Clinical Testing

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Koeller, D.R., Chen, R. & Oxnard, G.R. Hereditary Lung Cancer Risk: Recent Discoveries and Implications for Genetic Counseling and Testing. Curr Genet Med Rep 6, 83–88 (2018). https://doi.org/10.1007/s40142-018-0140-2

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  • DOI: https://doi.org/10.1007/s40142-018-0140-2

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