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Genomic Analysis of Families With a History of Discordant Cancers

Who can join

Ages 18 to 100 · All sexes

Inclusion Criteria:

* Affected patient with a family history suggestive of a known hereditary syndrome or meeting NCCN criteria for germline testing and consent to a multicancer panel

  --This cohort is meant as a real world control group receiving routine standard of care and is not eligible for WES.
* Affected patient with a family history of 5 or more discordant cancers in unilateral descent within a 3-generation pedigree.

  * Unaffected family members within such kindreds will be eligible for WES as long as a minimum of 2 affected and 1 unaffected family members consent to WES as trial participants.

Exclusion Criteria:

* Unable to safely provide a blood sample for genetic testing
* Unable to receive or decline to receive genetic counselling through the telephone, video conference, or in person
* Families known to segregate a previously identified high penetrance cancer susceptibility gene identified through routine medical genetics evaluation are not eligible WES
* Family is not amenable to routine medical genetics SOC genetics evaluation.

About the study

The purpose of this study is to identify novel gene mutations which have contributed to significant personal and family history of cancer. Adults with and without cancer will be accrued to the study. Participants qualify to take part in this research study because someone in their family has been diagnosed with or because they themselves have a cancer diagnosis.

Participants' DNA and other clinical information will be obtained from a blood sample in order to study the genetic basis of cancer and related complications. All portions in the DNA that code for proteins (i.e., the exome) will be studied. Participant DNA sample and information about family structure and family medical history and ethnic origin may also be collected to better understand this information. Clinical information will be stored and biological samples, including DNA, will be kept for up to three (3) years after collection for future. Ultimately, once identified, the role of the specific genetics changes in the development of inherited cancer(s) will be characterized.

What is being tested

• WES via Illumina NextSeq 550 sequencing system (genetic)
• Blood Draw (diagnostic test)
• Skin biopsy (diagnostic test)
• Saliva Sample (diagnostic test)

Sponsor: Case Comprehensive Cancer Center · Participants: 150 · Started: Nov 17, 2020

Contact the study team

• Anna Mitchell, MD PhD · Phone: 1-800-641-2422

Official record on ClinicalTrials.gov — NCT04860453

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.