Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

Other

• Individuals who decline to consent
• Individuals who are unable to give consent or assent and are without a designated healthcare proxy

• Cohort 1: individuals with or with high risk of carrying an EGFR T790M or other EGFR germline variant identified in blood or saliva, including via somatic single or multi-gene panel testing (MGPT). This includes both probands and family members.
  • Participants with variants of uncertain significance may be eligible at the PI's discretion
• Cohort 2: individuals with or with high risk of carrying non-EGFR germline variants suggestive of a potential inherited lung cancer risk, identified in blood or saliva, including via somatic single or multi-gene panel testing (MGPT). This includes both probands and family members.
  • Participants with variants of uncertain significance may be eligible at the PI's discretion
• Cohort 3: individuals with lung cancer who are not known to carry a pathogenic or likely 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 or family history, who may be presumed obligate carriers or healthy controls
  • Deceased patients may be included in the study. Pathology specimens and public records, such as death certificates, may be used to confirm information. If medical records and/or pathology specimens are needed, consent will be obtained from the descendant's next-of-kin. Next-of-kin refers to the following hierarchy of relatives: spouse, offspring, parents, and siblings. (Any further use of "next-of-kin" in this protocol refers to this hierarchy).
  • Data and specimens from previously consented eligible individuals (under Dana-Farber IRB protocol #12-360) will also be deposited into the study database and specimen banks from other investigators as long as their consents permit sharing of specimens and data. It is estimated that approximately 150 individuals may qualify under these criteria.
  • Some of the variants identified initially through germline testing may ultimately 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 for ongoing questionnaire or repeat specimen donation