Breast Cancer, Cancer Gene Mutation, Gastric Cancer
Conditions
Keywords
CTNNA1, Hereditary diffuse gastric cancer, Gastric cancer, Breast cancer
Brief summary
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
Detailed 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 future cancer risk management of individuals who carry a CTNNA1 loss-of-function variant.
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
Sponsors
Abramson Cancer Center at Penn Medicine
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
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 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Rate of cancer amongst carriers of CTNNA1 loss-of-function variants | Through study completion, which will average 1 year | After collecting personal and family cancer history from enrolled participants, family pedigrees will be utilized to calculate cancer risk estimates for for CTNNA1 loss-of-function variant carriers including gastric cancer risk, breast cancer risk, as well as risk of other cancers currently not known to be associated with CTNNA1 variants gene. |
| Number of CTNNA1 genotypes associated with a cancer phenotype | Through study completion, which will average 1 year | Using collected family pedigrees from enrolled participants, we will correlate estimated cancer risk for CTNNA1 loss-of-function variant carriers with their CTNNA1 genotype, to determine if there is a significant genotype-phenotype correlation observed. |
Countries
United States
Contacts
CONTACTBryson W Katona, MD, PhD
CONTACTDana Farengo Clark, MS, LCGC
PRINCIPAL_INVESTIGATORBryson W Katona, MD, PhD
University of Pennsylvania
Outcome results
None listed