Recruiting

Observational Study

Sponsor:

Dana-Farber Cancer Institute

Code:

NCT05463796

Conditions

Cancer Risk

Cancer Predisposition Syndrome

Hereditary Cancer Prediction

Childhood Cancer Survivors

Adult Cancer Survivors

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Interventions

Samples

Study Details

Brief summary:

This research study is creating a way to collect and store specimens and information from participants who may be at an increased risk of developing cancer, or has been diagnosed with an early phase of a cancer or a family member who has a family member with a precursor condition for cancer.

  • The objective of this study is to identify exposures as well as clinical, molecular, and pathological changes that can be used to predict early development of cancer, malignant transformation, and risks of progression to symptomatic cancer that can ultimately be fatal.
  • The ultimate goal is to identify novel markers of early detection and risk stratification to drive potential therapeutic approaches to intercept progression to cancer.

Conditions

Cancer Risk

Cancer Predisposition Syndrome

Hereditary Cancer Prediction

Childhood Cancer Survivors

Adult Cancer Survivors

Study ID

NCT05463796

Start date

Apr 25, 2023

Status verified date

Aug, 2026

Completion date

Mar 25, 2031

Anticipated

Primary completion date

Mar 25, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Inclusion Criteria:

  • Participants to be included in this study include the following (note that this list is not comprehensive but gives examples of precursor conditions for each organ type):

1-Hereditary risk for cancer including
  • Carriers of known or previously unrecognized pathogenic germline variants of cancer predisposing genes
  • Individuals with personal or family history suggestive of elevated cancer risk (this may include individuals who have negative genetic testing results or have not elected to undergo testing)
  • Individuals with a clinically based diagnosis of a Cancer Predisposition Syndrome (examples, neurofibromatosis, Fanconi Anemia, Ataxia-Telangiectasia)
  • Hereditary Cancer Prediction Model-based elevated cancer risk
  • Others at risk for specific cancers by virtue of exposure, obesity, gender, race and ethnicity, HPV exposure (for H\&N cancer for example), etc.
  • Exposed High Risk including

  • Childhood cancer survivors with treatment exposures associated with increased risk of cancer
  • Adult cancer survivors with treatment exposures associated with increased risk of cancer
  • Documented high level exposure to group 1 IARC carcinogens
  • Thoracic: individuals at risk for lung cancer including but not exclusive of the following criteria: Age >50, Smoking history of >15 pack years, First-degree relative history of lung cancer or COPD
  • alcoholic liver disease (NAFL), non-alcoholic steatohepatitis (NASH), cirrhosis
  • Precursor Lesions including

  • Breast: ductal/lobular carcinoma in situ (CIS) and atypical hyperplasia
  • GI: Barrett's esophagus, Pancreatic precursor lesions, colonic dysplasia/adenomata, nonalcoholic fatty liver (NAFL), nonalcoholic steatohepatitis (NASH), cirrhosis
  • GU: High grade prostatic epithelial neoplasia, and high-grade bladder urothelial dysplasia/carcinoma in situ,
  • Lung: Adenomatous hyperplasia
  • H\&N: high-risk oral precancerous diseases
  • Skin: Class II melanocytic lesions. Squamous dysplasia
  • Heme malignancies: CHIP, CCUS, ICUS, MGUS, SMM, SWM, MBL (spell these out), Low grade lymphomas
  • Thoracic: Lung nodules detected on screening CT that prompt further follow-up
  • GYN: STIC lesion (serous tubal intraepithelial carcinoma), Endometrial intraepithelial neoplasia, Cervical and endocervical carcinoma in situ, vulvar intraepithelial neoplasia
  • Pediatric histologic diagnoses sometimes associated with development of malignancy: Nephrogenic rests, benign bone lesions with risk of malignant degeneration (Giant cell tumor, osteochondroma), Spitz nevus, and others.
  • FAMILY MEMBERS or healthy individuals

Exclusion Criteria:

There are no exclusion criteria for the study.

Note: Patients with prior cancer history are allowed to participate. Patients with prior history of cancer or non-metastatic localized cancers (such as skin cancer or localized prostate cancer) are allowed to be enrolled. Patients enrolled in clinical trials or receiving therapy for precursor diseases are NOT excluded from this study.

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

HEREDITARY RISK

Participants will also be asked to complete an intake survey that will include questions about demographics, medical history and family history data.

Tissue samples will be collected during a routine visit.

Participants will be asked to donate any of the following tissue types:

  • Blood
  • Buccal swab (saliva) or mouthwash
  • Urine
  • Stool
  • Biopsy or surgical tissue (i.e., bone marrow)
  • Bodily fluids
  • Other tissues

EXPOSED HIGH RISK

Participants will also be asked to complete an intake survey that will include questions about demographics, medical history and family history data.

Tissue samples will be collected during a routine visit.

Participants will be asked to donate any of the following tissue types:

  • Blood
  • Buccal swab (saliva) or mouthwash
  • Urine
  • Stool
  • Biopsy or surgical tissue (i.e., bone marrow)
  • Bodily fluids
  • Other tissues

PRECURSOR LESIONS

Participants will also be asked to complete an intake survey that will include questions about demographics, medical history and family history data.

Tissue samples will be collected during a routine visit.

Participants will be asked to donate any of the following tissue types:

  • Blood
  • Buccal swab (saliva) or mouthwash
  • Urine
  • Stool
  • Biopsy or surgical tissue (i.e., bone marrow)
  • Bodily fluids
  • Other tissues

FAMILY MEMBERS

These family members will be identified by the patients participating in the study. Blood, buccal cells, or saliva or oral rinses will be collected in one of three ways from family members of patients (i) at the time of consent; (ii) via a mailed blood kit or saliva kit; or (iii) at a separate appointment scheduled by the consented participant

Interventions

Samples

Tissue samples will be collected during a routine visit. Participants will be asked to donate any of the following tissue types:

Blood, Buccal swab (saliva) or mouthwash, Urine, Stool, Biopsy or surgical tissue (i.e., bone marrow),Bodily fluids, Other tissues

Primary outcome measure

  • Identify exposures as well as clinical, molecular, and pathological changes that can be used to predict early development of cancer, malignant transformation, and risks of progression to symptomatic cancer that can ultimately be fatal. [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Jenna Beckwith, MPH

857-215-1892inadvancestudy@dfci.harvard.edu

Locations

Dana Farber Cancer Institute

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Sapna Syngal, MD

617-632-5022SSYNGAL@PARTNERS.ORG

Principal Investigator:

Sapna Syngal, MD

More Information

Sponsor

Dana-Farber Cancer Institute

Last update posted

Aug 17, 2026

Last verified

Aug, 2026

Keywords

  • Hereditary Risk for Cancer
  • Childhood cancer survivors
  • Adult cancer survivors
  • Precursor Lesions

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Dana-Farber Cancer Institute on 2026-08-17.