Rutgers University Study of the Genetics of Breast Cancer. (RUGCC-BC)

The Rutgers University Genetics Coordinating Center Breast Cancer Study

The goal of this observational study is to learn more about how genes impact the risk of breast cancer. Anyone 18 or older living in the US is eligible, and a diagnosis of cancer is NOT required. Study participation is online, and it takes about 20 minutes to complete health surveys and request a saliva collection kit sent through US mail. In return, study participants may opt to receive information about their genetic ancestry at no cost.

Study Overview

• Status: Recruiting
• Conditions: Breast Cancer; Breast Cancer Risk; Breast Cancer Prevention
• Intervention / Treatment: Genetic: Saliva sample; Other: Health Surveys

Detailed Description

This is an online research study to learn more about how genes affect the risk of breast cancer. No office visit is required and in return, participants may receive information about their genetic ancestry for free. BRCA1 and BRCA2 explain only about 25% of the genetic cause of breast cancer. This study will increase our understanding of the genetic basis of breast cancer, which is a crucial step in drug development to improve current treatment options. The study investigators seek a diverse population because men can also get breast cancer and diversity among participants maximizes the usefulness of the data. Participants will use our online study portal to answer questions about their health and provide their DNA via a saliva sample using a pre-paid mailer. Participation takes approximately 20 minutes. Participants will be invited to share data from their electronic health records, but this is not required for study participation. The study investigators keep participants engaged with short monthly newsletters.

• Study Type: Observational
• Enrollment (Estimated): 25000

Contacts and Locations

• Study Contact: Name: Tara Matise, Ph.D.; Phone Number: 848-445-3125; Email: rugcc@rutgers.edu
• Study Contact Backup: Name: Steve Buyske, Ph.D.; Phone Number: 848-445-7680; Email: rugcc@rutgers.edu

Study Locations

• United States
  • New Jersey
    • Piscataway, New Jersey, United States, 08854
      • Recruiting
      • Rutgers University
      • Contact: Tara Matise, Ph.D.; Phone Number: 848-445-3125; Email: rugcc@rutgers.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

The study population consists of anyone at least 18 years old who lives in the United States, including both individuals who have or had breast cancer and those who have not. Participants include males, females, non-binary, and all race-ethnic groups.

Description

Inclusion Criteria:

• age 18 years or older
• currently living in the United States
• able to understand and follow written instructions in English
• have access to the internet and a computer, laptop, tablet or smart phone
• willing to provide written informed consent for participation
• willing to provide DNA via a saliva sample using a collection kit mailed to the study participant's home
• willing to complete a survey with questions about health related to the study of breast cancer.

Exclusion Criteria:

• Not able to meet or fulfill any of the inclusion criteria

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Breast Cancer Cases; Study participants who have been diagnosed with any form of breast cancer, either currently or in the past.	Genetic: Saliva sample; Saliva sample is sent via prepaid US Mail for DNA extraction; Other: Health Surveys; Health surveys are filled out online in the study portal.
Breast Cancer Controls; Study participants who have never had a diagnosis of breast cancer.	Genetic: Saliva sample; Saliva sample is sent via prepaid US Mail for DNA extraction; Other: Health Surveys; Health surveys are filled out online in the study portal.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genetic risk variants associated with breast cancer	Genetic factors will be measured through whole exome sequencing along with genotyping of common variants, and then correlated with breast cancer and breast cancer subtype.	2 years

Collaborators and Investigators

• Sponsor: Rutgers, The State University of New Jersey
• Collaborators: Regeneron Pharmaceuticals
• Investigators: Principal Investigator: Tara Matise, Ph.D., Rutgers, The State University of New Jersey

Publications and helpful links

Helpful Links

• Study website with detailed information about the study.
• Study portal for participant enrollment and study engagement.

Study record dates

Study Major Dates

• Study Start (Actual): April 15, 2024
• Primary Completion (Estimated): April 15, 2028
• Study Completion (Estimated): April 30, 2028

Study Registration Dates

• First Submitted: January 8, 2025
• First Submitted That Met QC Criteria: January 8, 2025
• First Posted (Actual): January 14, 2025

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 21, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Skin Diseases; Breast Diseases; Skin and Connective Tissue Diseases; Breast Neoplasms; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Surveys and Questionnaires; Health Surveys
• Other Study ID Numbers: Pro2023001275

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No