UPCC 21220 CTNNA1 Familial Expansion (CAFE) Study (CAFÉ)

Investigating Cancer Risks Associated with CTNNA1 Gene Variants

Enrolling By Invitation
18 years or above
All
Phase N/A
100 participants needed
1 Location

Brief description of study

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

Detailed description of study

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.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Cancer Gene Mutation, Gastric Cancer, Breast Cancer
  • Age: 18 years or above
  • Gender: All

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

The purpose of this study is to investigate the cancer risks linked to CTNNA1 gene alterations. CTNNA1 gene changes, known as loss-of-function variants, may increase the risk for certain hereditary cancers such as gastric and breast cancer. This study will collect personal and family history from individuals with these gene changes to better understand the associated cancer risks.

Participants will provide information about their personal and family health history. The study will analyze this data to explore any potential links between the CTNNA1 gene changes and cancer development. This information will help in understanding how these genetic variants might affect cancer risk.

  • Who can participate: Adults aged 18 and over who either carry a CTNNA1 loss-of-function variant or are a first-degree relative of someone who does can participate. Participants must understand English and provide informed consent.
  • Study details: Participants will share their personal and family health history. The study will focus on understanding the relationship between CTNNA1 gene changes and cancer risk.
Updated on 05 Feb 2026. Study ID: 20-1121
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Study is selecting its participants from a population, or group of people, decided on by the researchers in advance.

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