CTNNA1 Familial Expansion Study

Description

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

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Study Overview

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Study Details

Study overview

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

CTNNA1 Familial Expansion (CAFÉ) Study

CTNNA1 Familial Expansion Study

Condition
Cancer Gene Mutation
Intervention / Treatment

-

Contacts and Locations

Philadelphia

Abramson Cancer Center of the University of Pennsylvania, Philadelphia, Pennsylvania, United States, 19104

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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

Ages Eligible for Study

18 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Abramson Cancer Center at Penn Medicine,

Bryson W Katona, MD, PhD, PRINCIPAL_INVESTIGATOR, University of Pennsylvania

Study Record Dates

2026-01-01