Recruiting

Familial Expansion

Sponsor:

Abramson Cancer Center at Penn Medicine

Code:

NCT05126290

Conditions

Cancer Gene Mutation

Gastric Cancer

Breast Cancer

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Interventions

Collection of personal and family history from CAFÉ Study participants

Study Details

Brief summary:

The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.

Conditions

Cancer Gene Mutation

Gastric Cancer

Breast Cancer

Study ID

NCT05126290

Start date

Mar 16, 2021

Status verified date

Feb, 2026

Completion date

Jan 1, 2028

Anticipated

Primary completion date

Jan 1, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • 18 years of age and older
  • Participants must be carrier, or a first degree relative of a carrier, of a CTNNA1 loss-of-function variant defined as: a variant predicted to lead to protein truncation (nonsense and frameshift variants), a large deletion of one or more exons, or a consensus splice site variant predicted to disrupt splicing in CTNNA1. CTNNA1 loss-of-function variants do not need to be classified as pathogenic or likely pathogenic to be included.
  • Participants must be able to understand and read English
  • Participants must be able to provide informed verbal or written consent

Exclusion Criteria:

  • Less than 18 years of age
  • Individuals who do not carry a CTNNA1 loss-of-function variant and are not a first degree relative of a CTNNA1 loss-of-function variant carrier.
  • Individuals who cannot speak and read English
  • Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation
  • Unable to comply with the study procedures as determined by the study investigators or study staff

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Interventions

Collection of personal and family history from CAFÉ Study participants

Personal medical and genetic history, as well as relevant information about family history, will be collected from participants in the CAFÉ Study through an online data entry system

Primary outcome measure

  • Rate of cancer amongst carriers of CTNNA1 loss-of-function variants [ Time Frame: Through study completion, which will average 1 year ]
  • Number of CTNNA1 genotypes associated with a cancer phenotype [ Time Frame: Through study completion, which will average 1 year ]

Central Contacts and Locations

Central contacts

Bryson W Katona, MD, PhD

215-349-8222cafestudy@pennmedicine.upenn.edu

Dana Farengo Clark, MS, LCGC

cafestudy@pennmedicine.upenn.edu

Locations

Abramson Cancer Center of the University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Bryson Katona, MD, PhD

215-349-8222cafestudy@pennmedicine.upenn.edu

Principal Investigator:

Bryson Katona, MD, PhD

More Information

Sponsor

Abramson Cancer Center at Penn Medicine

Last update posted

Feb 5, 2026

Last verified

Feb, 2026

Keywords

  • CTNNA1
  • Hereditary diffuse gastric cancer
  • Gastric cancer
  • Breast cancer

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Abramson Cancer Center at Penn Medicine on 2026-02-05.