The purpose of this research study is to learn more about the inherited risk for developing lung cancer.
Lung cancer is largely tobacco related, but the contribution of inherited susceptibility has been less well-studied, particularly among never-smokers. The goal of this study is to learn more about genetic susceptibility to lung cancer by studying individuals and families with known pathogenic germline mutations and/or family histories suggestive for heritable lung cancer, specifically in cases where tobacco exposure is minimal. Patients will be identified through somatic multi-gene panel testing (MGPT) as well as through reported personal and family histories of one or multiple cancers. The overriding goal of this protocol is to follow patients with known germline mutations and strong family histories of lung cancer to better determine their risk of lung cancer and inform a screening paradigm based on this risk. This will allow us to observe the natural history of this disease and better understand the mechanisms underlying lung tumorigenesis in patients with susceptible germline backgrounds. These patients and their families will be enrolled as individuals with or without lung cancer who meet the following criteria: 1) individuals known to carry or at risk for carrying a germline EGFR mutation (T790M or other), identified through family members or by somatic genotyping at diagnosis, 2) individuals known to carry or at risk for carrying a pathogenic germline mutation in genes other than EGFR and with family history of lung cancer, or 3) individuals with no known germline mutation but with minimal exposure to tobacco and family history of lung cancer, personal history of other primary cancers, or multi-focal lung cancer. This study is designed to create a data and specimen repository as well as follow patients over time to learn how to better predict lung cancer risk for those with certain genetic changes and family history of lung cancer, and to better understand how and why lung cancer develops in families. The research study procedures include screening for eligibility, collection of information from participants' medical record, short questionnaires, and collecting blood and/or saliva samples. Procedures may also include use of tissue samples, access to medical records and stored specimens from deceased relatives, and contact information of family members. It is expected that about 500 people will participant in this study.
Study Type
OBSERVATIONAL
Enrollment
500
* Provide blood and/or saliva sample * Answer short questionnaires * Consider consenting to other optional parts of the research such as: * use stored tissue samples related to prior cancer treatment * Allow access to deceased relatives' medical records and stored specimens * Provide blood 1x per year for up to 5 years * Provide contact information of family members
Brigham and Women's Hospital
Boston, Massachusetts, United States
NOT_YET_RECRUITINGDana-Farber Cancer Institute
Boston, Massachusetts, United States
RECRUITINGPrevalence of rare germline EGFR mutations
To determine the prevalence of rare germline EGFR T790M or other (e.g., EGFR V843I and R776H) mutations in lung cancer patients and in relatives of carriers of germline EGFR mutations
Time frame: 3 years
Prevalence of rare germline non-EGFR mutations
To determine the prevalence of rare germline non-EGFR mutations (e.g., HER2, BRCA2, MET, YAP1) in lung cancer patients and in relatives of carriers of germline non-EGFR mutations
Time frame: 3 years
Prevalence of rare pathogenic or likely pathogenic germline variants in familial lung cancers
To determine prevalence of rare pathogenic or likely pathogenic germline variants in individuals and families where lung cancer has occurred in multiple generations or across multiple family members of the same generation
Time frame: 3 years
Prevalence of rare pathogenic or likely pathogenic germline variants in lung cancer patients with multiple primary cancers or multi-focal NSCLC
To determine prevalence of rare pathogenic or likely pathogenic germline variants in lung cancer patients with multiple primary cancers or multi-focal NSCLC
Time frame: 3 years
Preliminary Assessment of History of Lung Cancers
To make a preliminary assessment of the natural history of lung cancers occurring in patients with germline EGFR mutations
Time frame: 3 years
Estimate of Prevalence of Lung Nodules
To generate an initial estimate of the prevalence of CT-detected lung nodules in individuals with germline EGFR mutations
Time frame: 3 years
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Repository of Specimens and Data
Prospective registry of patients and families with hereditary or familial lung cancer to collect clinicopathologic information and biologic specimens.
Time frame: 3 years