Early Detection In Those With Hereditary Cancer Predisposition

Overview

About this study

The purpose of this stduy is to develop early cancer detection markers in these high risk genetically predisposed populations we require three things:
a) Clinical phenotype of patients with hereditary cancer pedispositon syndromes
b) Longitudinal biospecimen collection that can be utilzied for ct-DNA analysis
c) Next generation sequencing including nucleir acid sequencing of cell free DNA and RNA, genomic DNA, messenger RNA and fragmentomics analysis.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Patients at ages 18 to 99 years old and

  • Venipuncture is feasible (health, access and/or tolerability) for requested blood sample(s).

  • Individuals have agreed to participate and signed the study informed consent form. And one of the following criteria:

  • Individuals diagnosed with or suspected of having a hereditary cancer syndrome, including Lynch syndrome, HBOC, Li Fraumeni, PALB2, ATM using standard clinical and genetic testing criteria. 

  • Patients with no history of Invasive Cancer within last 3 years (36 months).  (Skin cancers such as BCC and SCC, high grade dysplasia, carcinoma in situ will NOT be exclusionary cancers)

  • Individuals referred to and being seen in the cancer clinics at Mayo Clinic Arizona

  • Patients undergoing surgery at Mayo Clinic Arizona for hereditary cancer syndrome indications.  

  • Patients with a hereditary cancer syndrome having upper or lower GI endoscopic procedures for routine care at Mayo Clinic Arizona.  

Exclusion Criteria:

  • Individuals who do not meet study inclusion criteria.

  • Individuals who have not agreed to participate and have not signed the study consent form.

  • Patients with a diagnosis of invasive cancer within the last 3 years.


Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 4/18/2025. Questions regarding updates should be directed to the study team contact.
 

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Scottsdale/Phoenix, Ariz.

Mayo Clinic principal investigator

Niloy Jewel Samadder, M.D.

Open for enrollment

Contact information:

Clinical Studies Unit

(904) 953-2255

More information

Publications

Publications are currently not available