Genomic Analysis of Families With a History of Discordant Cancers

Launched by CASE COMPREHENSIVE CANCER CENTER · Apr 22, 2021

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the genetic factors that may contribute to "discordant cancers," which means different types of cancer that occur within the same family. The researchers want to find new gene mutations that could be linked to these cancers. The study is open to adults who either have a cancer diagnosis or have a family member who has been diagnosed with cancer. Participants will provide a blood sample, from which the researchers will analyze DNA to explore the genetic basis of these cancers and any related health issues.

To be eligible for this study, participants should have a family history suggesting a hereditary cancer syndrome, or they should come from families where at least five different cancers have occurred across three generations. If you are an affected individual in such a family, you may be able to participate, and even unaffected family members can join if certain conditions are met. Participants can expect to share some personal and family medical history, and the study will keep their samples for up to three years for further research. This study aims to enhance our understanding of inherited cancers and help improve cancer care in the future.

Gender

ALL

Eligibility criteria

• 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.