Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

Phase

N/A

Condition

Non-small Cell Lung Cancer

Birth Defects

Lung Cancer

Treatment

Data and Specimen Collection

Clinical Study ID

NCT05587439

21-568

Ages > 18
All Genders

Study Summary

The purpose of this research study is to learn more about the inherited risk for developing lung cancer.

Eligibility Criteria

Inclusion

Inclusion Criteria:

Cohort 1: individuals with or with high risk of carrying an EGFR T790M or other EGFRgermline variant identified in blood or saliva, including via somatic single ormulti-gene panel testing (MGPT). This includes both probands and family members.
Participants with variants of uncertain significance may be eligible at thePI's discretion
Cohort 2: individuals with or with high risk of carrying non-EGFR germline variantssuggestive of a potential inherited lung cancer risk, identified in blood or saliva,including via somatic single or multi-gene panel testing (MGPT). This includes bothprobands and family members.
Participants with variants of uncertain significance may be eligible at thePI's discretion
Cohort 3: individuals with lung cancer who are not known to carry a pathogenic orlikely pathogenic variant, and with one of the following:
first-degree relative with lung cancer
multi-generational family history of lung cancer
personal history of multiple primary lung cancers or other neoplasms
multifocal lung cancer This includes both probands and their families.
For each cohort, the following applies:
May include blood relatives of individuals with the aforementioned variants orfamily history, who may be presumed obligate carriers or healthy controls
Deceased patients may be included in the study. Pathology specimens and publicrecords, such as death certificates, may be used to confirm information. Ifmedical records and/or pathology specimens are needed, consent will be obtainedfrom the descendant's next-of-kin. Next-of-kin refers to the followinghierarchy of relatives: spouse, offspring, parents, and siblings. (Any furtheruse of "next-of-kin" in this protocol refers to this hierarchy).
Data and specimens from previously consented eligible individuals (underDana-Farber IRB protocol #12-360) will also be deposited into the studydatabase and specimen banks from other investigators as long as their consentspermit sharing of specimens and data. It is estimated that approximately 150individuals may qualify under these criteria.
Some of the variants identified initially through germline testing mayultimately be shown to not be germline but rather somatic mosaic (ACE or CHIP).These individuals will remain in the study cohort but will not be asked forongoing questionnaire or repeat specimen donation

Exclusion

Exclusion Criteria:

Individuals who decline to consent
Individuals who are unable to give consent or assent and are without a designatedhealthcare proxy

Study Design

Data and Specimen Collection

January 01, 2023

November 01, 2027

Study Description

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.

Connect with a study center

Brigham and Women's Hospital
Boston, Massachusetts 02115
United States
Site Not Available
Dana-Farber Cancer Institute
Boston, Massachusetts 02115
United States
Active - Recruiting

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