RecruitingNCT05126290

CTNNA1 Familial Expansion Study

CTNNA1 Familial Expansion (CAFÉ) Study

Sponsor

Abramson Cancer Center at Penn Medicine

Enrollment

100 participants

Start Date

Mar 16, 2021

Study Type

OBSERVATIONAL

Conditions

Breast Cancer Gastric Cancer Cancer Gene Mutation

Summary

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

Eligibility

Min Age: 18 Years

Inclusion Criteria4

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 Criteria5

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

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