CTNNA1 Familial Expansion (CAFÉ) Study
Abramson Cancer Center at Penn Medicine
Summary
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
Description
The CAFÉ Study aims to determine the degree to which loss-of-function variants in the CTNNA1 gene are associated with hereditary cancers, including gastric cancer, breast cancer, as well as other cancers that may be associated with this gene. By obtaining personal and family history information from individuals who carry a CTNNA1 loss-of-function variant and their family members, this study will aim to better define CTNNA1 associated cancer risks and determine whether there is a genotype/phenotype correlation for CTNNA1 loss-of-function variants. This information will be important for the futu…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
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 o…
Interventions
- OtherCollection 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
Location
- Abramson Cancer Center of the University of PennsylvaniaPhiladelphia, Pennsylvania