CAFÉ: CTNNA1 Familial Expansion Study
The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.
|Condition or Disease||Intervention/Treatment||Phase|
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.
Primary Outcome Measures
- Cancer risk estimates for 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.
- Determine if there is a CTNNA1 genotype-phenotype that confers cancer risk [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.
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
Contacts and Locations
|1||Abramson Cancer Center of the University of Pennsylvania||Philadelphia||Pennsylvania||United States||19104|
Sponsors and Collaborators
- Abramson Cancer Center of the University of Pennsylvania
- Principal Investigator: Bryson W Katona, MD, PhD, University of Pennsylvania
Study Documents (Full-Text)None provided.
- Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW. Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. Genet Med. 2020 May;22(5):840-846. doi: 10.1038/s41436-020-0753-1. Epub 2020 Feb 13.
- UPCC 21220